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1.
Ann Neurol ; 96(3): 423-440, 2024 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-38923548

RESUMEN

Amyloid neuropathy is caused by deposition of insoluble ß-pleated amyloid sheets in the peripheral nervous system. It is most common in: (1) light-chain amyloidosis, a clonal non-proliferative plasma cell disorder in which fragments of immunoglobulin, light or heavy chain, deposit in tissues, and (2) hereditary transthyretin (ATTRv) amyloidosis, a disorder caused by autosomal dominant mutations in the TTR gene resulting in mutated protein that has a higher tendency to misfold. Amyloid fibrils deposit in the endoneurium of peripheral nerves, often extensive in the dorsal root ganglia and sympathetic ganglia, leading to atrophy of Schwann cells in proximity to amyloid fibrils and blood-nerve barrier disruption. Clinically, amyloid neuropathy is manifested as a length-dependent sensory predominant neuropathy associated with generalized autonomic failure. Small unmyelinated nerves are involved early and prominently in early-onset Val30Met ATTRv, whereas other ATTRv and light-chain amyloidosis often present with large- and small-fiber involvement. Nerve conduction studies, quantitative sudomotor axon testing, and intraepidermal nerve fiber density are useful tools to evaluate denervation. Amyloid deposition can be demonstrated by tissue biopsy of the affected organ or surrogate site, as well as bone-avid radiotracer cardiac imaging. Treatment of light-chain amyloidosis has been revolutionized by monoclonal antibodies and stem cell transplantation with improved 5-year survival up to 77%. Novel gene therapy and transthyretin stabilizers have revolutionized treatment of ATTRv, improving the course of neuropathy (less change in the modified Neuropathy Impairment Score + 7 from baseline) and quality of life. With great progress in amyloidosis therapies, early diagnosis and presymptomatic testing for ATTRv family members has become paramount. ANN NEUROL 2024;96:423-440.


Asunto(s)
Neuropatías Amiloides Familiares , Neuropatías Amiloides , Humanos , Neuropatías Amiloides Familiares/terapia , Neuropatías Amiloides Familiares/genética , Neuropatías Amiloides Familiares/fisiopatología , Neuropatías Amiloides/terapia , Neuropatías Amiloides/genética , Amiloidosis de Cadenas Ligeras de las Inmunoglobulinas/terapia , Amiloidosis de Cadenas Ligeras de las Inmunoglobulinas/genética , Amiloidosis de Cadenas Ligeras de las Inmunoglobulinas/fisiopatología , Amiloidosis/terapia , Amiloidosis/genética , Prealbúmina/genética
2.
Muscle Nerve ; 69(3): 273-287, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-38174864

RESUMEN

Hereditary transthyretin (ATTRv; v for variant) amyloidosis is a rare, multisystem, progressive, and fatal disease in which polyneuropathy is a cardinal manifestation. Due to a lack of United States (US)-specific guidance on ATTRv amyloidosis with polyneuropathy, a panel of US-based expert clinicians convened to address identification, monitoring, and treatment of this disease. ATTRv amyloidosis with polyneuropathy should be suspected in unexplained progressive neuropathy, especially if associated with systemic symptoms or family history. The diagnosis is confirmed through genetic testing, biopsy, or cardiac technetium-based scintigraphy. Treatment should be initiated as soon as possible after diagnosis, with gene-silencing therapeutics recommended as a first-line option. Consensus is lacking on what represents "disease progression" during treatment; however, the aggressive natural history of this disease should be considered when evaluating the effectiveness of any therapy.


Asunto(s)
Neuropatías Amiloides Familiares , Polineuropatías , Humanos , Neuropatías Amiloides Familiares/complicaciones , Neuropatías Amiloides Familiares/diagnóstico , Neuropatías Amiloides Familiares/genética , Polineuropatías/diagnóstico , Polineuropatías/terapia , Agresión , Biopsia , Prealbúmina/genética
3.
Clin Auton Res ; 34(4): 421-425, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-38865034

RESUMEN

PURPOSE: Prior studies reported evidence of autonomic involvement in motor neuron disease and suggested more severe dysfunction in upper motor neuron predominant syndromes. Hence, we sought to characterize autonomic impairment in primary lateral sclerosis. METHODS: Neurological evaluations, thermoregulatory sweat tests, and autonomic reflex screens were analyzed retrospectively in 34 primary lateral sclerosis patients (28 definite and 6 probable). Patients with other potential causes of autonomic failure and patients with autonomic testing results compromised by artifact were excluded. RESULTS: A total of 17 patients reported autonomic symptoms. Orthostatic lightheadedness was most frequent (8 patients), followed by bladder (7), bowel (5), and erectile dysfunction (3). The autonomic reflex screens of 33 patients were reviewed; 20 patients had abnormal studies. The thermoregulatory sweat tests of 19 patients were reviewed; 11 patients had abnormal studies. Composite Autonomic Severity Score was calculated for 33 patients and found abnormal in 20/33 patients (60.6%): 15/20 patients (75%) had mild impairment, and 5/20 patients (25%) had moderate impairment. The frequencies of testing abnormalities were: sudomotor 18/20 (90%), cardiovagal 9/20 (45%), and adrenergic 6/20 (30%). Sweat loss pattern analysis showed global, regional, and mixed patterns to be more common than length-dependent and distal patterns. CONCLUSION: We found evidence of frequent autonomic dysfunction in primary lateral sclerosis, which is generally of modest severity akin to prior reports for amyotrophic lateral sclerosis, but more commonly in a pattern consistent with preganglionic/ganglionic localization. This suggests that primary lateral sclerosis, as with amyotrophic lateral sclerosis, is a multisystem disease that affects the autonomic nervous system.


Asunto(s)
Enfermedades del Sistema Nervioso Autónomo , Humanos , Masculino , Persona de Mediana Edad , Femenino , Enfermedades del Sistema Nervioso Autónomo/fisiopatología , Enfermedades del Sistema Nervioso Autónomo/diagnóstico , Enfermedades del Sistema Nervioso Autónomo/etiología , Adulto , Estudios Retrospectivos , Anciano , Sudoración/fisiología , Enfermedad de la Neurona Motora/fisiopatología , Enfermedad de la Neurona Motora/diagnóstico , Enfermedad de la Neurona Motora/complicaciones , Sistema Nervioso Autónomo/fisiopatología
4.
Muscle Nerve ; 63(6): 852-860, 2021 06.
Artículo en Inglés | MEDLINE | ID: mdl-33651380

RESUMEN

INTRODUCTION/AIMS: We aimed to describe the clinical phenotype, histopathological findings and overall survival (OS) of the immune-mediated neuromuscular complications of graft-versus-host disease (GVHD). METHODS: We conducted a retrospective chart review of adult patients presenting with immune-mediated neuromuscular complications of GVHD to Mayo Clinic, between April 2013 and July 2018.We collected clinical and laboratory characteristics, histopathological findings, response to treatment and survival data. RESULTS: We identified 20 patients with a mean age at presentation of 55 y. Mean time from transplant to neurological presentation was 14 mo. Myositis was the most common complication seen in 17 patients, manifesting with predominantly axial and/or proximal weakness. Eleven patients had a muscle biopsy showing diffuse perimysial, predominantly macrophagic infiltration in 10, 3 of them with perimysial perivascular lymphocytic collections, and endomysial and perimysial lymphocytic infiltration in 1. Only two patients had a neuropathic complication: one each with acute inflammatory demyelinating polyradiculoneuropathy and neuralgic amyotrophy. A single patient had a myasthenic syndrome presenting with fluctuating foot drop. Nineteen patients were treated and all responded to immunosuppressive agents; however, 11 had further GVHD flares requiring escalation of therapy. After a median follow-up of 83 mo, seven (35%) patients died: five from progressive GVHD and two from infections. The 5-y OS from time of transplant was 68%. DISCUSSION: Myositis is the most common immune-mediated neuromuscular complication of GVHD while peripheral neuropathy and myasthenic syndromes appear less common. The macrophage-predominant infiltration on muscle biopsy deserves further study to better clarify the role of macrophages in GVHD pathogenesis.


Asunto(s)
Trasplante de Médula Ósea/efectos adversos , Enfermedad Injerto contra Huésped/complicaciones , Miositis/etiología , Enfermedades del Sistema Nervioso Periférico/etiología , Femenino , Enfermedad Injerto contra Huésped/inmunología , Enfermedad Injerto contra Huésped/patología , Humanos , Masculino , Persona de Mediana Edad , Músculo Esquelético/inmunología , Músculo Esquelético/patología , Miositis/inmunología , Miositis/patología , Enfermedades del Sistema Nervioso Periférico/inmunología , Enfermedades del Sistema Nervioso Periférico/patología , Estudios Retrospectivos
5.
Clin Auton Res ; 31(3): 385-394, 2021 06.
Artículo en Inglés | MEDLINE | ID: mdl-33860871

RESUMEN

PURPOSE: Post-COVID-19 syndrome is a poorly understood aspect of the current pandemic, with clinical features that overlap with symptoms of autonomic/small fiber dysfunction. An early systematic analysis of autonomic dysfunction following COVID-19 is lacking and may provide initial insights into the spectrum of this condition. METHODS: We conducted a retrospective review of all patients with confirmed history of COVID-19 infection referred for autonomic testing for symptoms concerning for para-/postinfectious autonomic dysfunction at Mayo Clinic Rochester or Jacksonville between March 2020 and January 2021. RESULTS: We identified 27 patients fulfilling the search criteria. Symptoms developed between 0 and 122 days following the acute infection and included lightheadedness (93%), orthostatic headache (22%), syncope (11%), hyperhidrosis (11%), and burning pain (11%). Sudomotor function was abnormal in 36%, cardiovagal function in 27%, and cardiovascular adrenergic function in 7%. The most common clinical scenario was orthostatic symptoms without tachycardia or hypotension (41%); 22% of patients fulfilled the criteria for postural tachycardia syndrome (POTS), and 11% had borderline findings to support orthostatic intolerance. One patient each was diagnosed with autoimmune autonomic ganglionopathy, inappropriate sinus tachycardia, vasodepressor syncope, cough/vasovagal syncope, exacerbation of preexisting orthostatic hypotension, exacerbation of sensory and autonomic neuropathy, and exacerbation of small fiber neuropathy. CONCLUSION: Abnormalities on autonomic testing were seen in the majority of patients but were mild in most cases. The most common finding was orthostatic intolerance, often without objective hemodynamic abnormalities on testing. Unmasking/exacerbation of preexisting conditions was seen. The temporal association between infection and autonomic symptoms implies a causal relationship, which however cannot be proven by this study.


Asunto(s)
Enfermedades del Sistema Nervioso Autónomo/etiología , COVID-19/complicaciones , Adulto , Anciano , Disreflexia Autónoma/etiología , Fibras Autónomas Posganglionares/patología , Enfermedades del Sistema Nervioso Autónomo/diagnóstico , Enfermedades del Sistema Nervioso Autónomo/fisiopatología , Mareo , Femenino , Hemodinámica , Humanos , Masculino , Persona de Mediana Edad , Examen Neurológico , Intolerancia Ortostática/diagnóstico , Síndrome de Taquicardia Postural Ortostática/etiología , Estudios Retrospectivos , Síndrome de Shy-Drager/etiología , Adulto Joven , Síndrome Post Agudo de COVID-19
6.
Muscle Nerve ; 61(1): 95-100, 2020 01.
Artículo en Inglés | MEDLINE | ID: mdl-31587306

RESUMEN

INTRODUCTION: Although peripheral neuropathy and cardiomyopathy are well-recognized manifestations of transthyretin (ATTR) amyloidosis, myopathy has been rarely reported. METHODS: In this study we reviewed our muscle biopsy database (January 1998 to June 2018) to identify patients with ATTR amyloid myopathy confirmed by molecular or proteomic analysis. Clinical and laboratory findings were reviewed. RESULTS: We identified eight ATTR amyloid myopathy patients (5 hereditary ATTR [ATTRv] and 3 wild-type ATTR [ATTRwt]). Myopathy was the initial manifestation in all ATTRwt patients and followed peripheral neuropathy (4 patients) or cardiomyopathy (1 patient) in ATTRv patients. One ATTRv patient developed myopathy after liver transplant. Peripheral neuropathy and cardiac amyloidosis occurred in seven and six patients, respectively. Muscle biopsy showed interstitial amyloid deposition in all patients, rare necrotic/regenerating fibers in six, and vacuoles in four. DISCUSSION: Myopathy can be the initial manifestation of ATTRwt amyloidosis and can precede the peripheral neuropathy or occur after liver transplant in ATTRv amyloidosis.


Asunto(s)
Neuropatías Amiloides Familiares/patología , Enfermedades Musculares/patología , Prealbúmina , Adulto , Anciano , Anciano de 80 o más Años , Neuropatías Amiloides Familiares/complicaciones , Biopsia , Cardiomiopatías/patología , Bases de Datos Factuales , Electromiografía , Femenino , Humanos , Trasplante de Hígado/efectos adversos , Masculino , Persona de Mediana Edad , Músculo Esquelético/patología , Enfermedades Musculares/etiología , Necrosis , Conducción Nerviosa , Enfermedades del Sistema Nervioso Periférico/patología , Proteómica
7.
Muscle Nerve ; 62(4): 502-508, 2020 10.
Artículo en Inglés | MEDLINE | ID: mdl-32654212

RESUMEN

INTRODUCTION: Inotersen, an antisense oligonucleotide inhibitor of transthyretin (TTR) protein production, demonstrated significant benefit versus placebo in the modified Neuropathy Impairment Score (NIS) +7 neurophysiologic tests (mNIS+7) in patients with hereditary TTR-mediated amyloidosis (hATTR) with polyneuropathy. This analysis assessed the mNIS+7 components by anatomic location and the lower limb function (LLF) test. METHODS: Adults with hATTR in the NEURO-TTR trial (NCT01737398) were randomly assigned to receive weekly doses of subcutaneous inotersen 300 mg or placebo for 65 weeks. The mNIS+7 and LLF were assessed at 35 and 66 weeks. RESULTS: All major mNIS+7 components (muscle weakness, muscle stretch reflexes, sensation) and the LLF showed significant efficacy in patients receiving inotersen versus placebo; however, NIS-reflexes (upper limb), touch pressure (upper and lower limbs), and heart rate during deep breathing did not show significant effects. DISCUSSION: The results of this analysis reinforce the beneficial effect of inotersen on slowing neuropathy progression in patients with hATTR polyneuropathy.


Asunto(s)
Neuropatías Amiloides Familiares/tratamiento farmacológico , Extremidad Inferior/fisiopatología , Debilidad Muscular/tratamiento farmacológico , Oligonucleótidos Antisentido/uso terapéutico , Oligonucleótidos/uso terapéutico , Neuropatías Amiloides Familiares/fisiopatología , Método Doble Ciego , Femenino , Frecuencia Cardíaca/efectos de los fármacos , Humanos , Masculino , Persona de Mediana Edad , Debilidad Muscular/fisiopatología , Oligonucleótidos/farmacología , Oligonucleótidos Antisentido/farmacología , Reflejo/efectos de los fármacos , Resultado del Tratamiento
8.
Muscle Nerve ; 62(4): 509-515, 2020 10.
Artículo en Inglés | MEDLINE | ID: mdl-32654156

RESUMEN

INTRODUCTION: Hereditary transthyretin-mediated amyloidosis (hATTR) manifests as multisystem dysfunction, including progressive polyneuropathy. Inotersen, an antisense oligonucleotide, improved the course of neuropathic impairment in patients with hATTR in the pivotal NEURO-TTR study (NCT01737398). To determine inotersen's impact on symptoms and patients' neuropathy experience, we performed a post hoc analysis of the Neuropathy Symptoms and Change (NSC) score. METHODS: Stage 1 or 2 hATTR patients were randomized to receive weekly subcutaneous inotersen or placebo for 65 weeks. NSC score was assessed at baseline and 35 and 66 weeks. RESULTS: At 66 weeks, inotersen-treated patients had symptom stabilization as compared with worsening in patients receiving placebo, based on total NSC score. There were also improvements in the subdomains of muscle weakness, sensory, pain, and autonomic symptoms, and for various individual items. DISCUSSION: Inotersen treatment stabilized neuropathy symptoms, including autonomic symptoms, in patients with hATTR according to NSC score. Thus, the NSC may be an effective measure to assess neuropathy progression and patients' neuropathy experience in clinical practice.


Asunto(s)
Neuropatías Amiloides Familiares/tratamiento farmacológico , Progresión de la Enfermedad , Oligonucleótidos Antisentido/uso terapéutico , Oligonucleótidos/uso terapéutico , Calidad de Vida , Adulto , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Evaluación de Síntomas , Resultado del Tratamiento
9.
Acta Neurochir (Wien) ; 162(8): 1891-1897, 2020 08.
Artículo en Inglés | MEDLINE | ID: mdl-32529330

RESUMEN

BACKGROUND: Neurofibromatosis type 2 (NF2) is a genetic disorder characterized by mutations of the NF2 tumor suppressor gene that predisposes patients to develop multiple tumors in the peripheral and central nervous system. The most common neoplasms associated with the disease are schwannomas and meningiomas. Both have been shown to contain abnormalities in chromosome 22 and the NF2 gene, suggesting a genetic component to their pathogenesis. Perineuriomas are rare benign tumors arising from the perineural cells. They are commonly classified as intraneural and soft tissue perineuriomas. Several studies have reported mutations in genes on chromosome 22 in both types of perineuriomas, and there are reports of soft tissue perineuriomas associated with NF2 gene mutations. Despite this, perineuriomas are not considered as part of the NF2 constellation of tumors. METHOD: The electronic medical records were searched for patients with a radiologic or pathologic diagnosis of intraneural perineurioma. Patients with clinical signs and genetic testing consistent with a diagnosis of NF2 were further evaluated. RESULTS: Of 112 patients meeting inclusion criteria, there were two cases of intraneural perineurioma in patients with NF2 treated at our institution (1.8%). We include a third patient treated at another facility for whom we performed a virtual consultation. CONCLUSIONS: The rarity of both NF2 and perineuriomas could explain the rarity of perineuriomas in the setting of NF2. Furthermore, there is divergent intraneural and soft tissue perineurioma somatic mutation pathogenesis, and there may be cytogenetic overlap between perineuriomas and multiple tumor syndromes. Our observed occurrence of intraneural perineurioma in the setting of NF2 in several patients provides further evidence of a potential link between the NF2 gene and the development of intraneural perineurioma.


Asunto(s)
Neoplasias de la Vaina del Nervio/complicaciones , Neurofibromatosis 2/epidemiología , Humanos , Neurofibromatosis 2/complicaciones
10.
Ann Neurol ; 81(2): 316-321, 2017 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-28019650

RESUMEN

Intraneural perineuriomas are benign peripheral nerve sheath tumors that cause progressive debilitating focal extremity weakness. The etiology of perineuriomas is largely unknown. We utilized whole exome sequencing, copy number algorithm evaluation, and high-resolution whole genome microarray to investigate for a genetic causal link to intraneural perineuriomas. Ten of 16 (60%) tumor cases had mutations in the WD40 domain of TRAF7, the same location for causal mutations of meningiomas. Two additional perineurioma cases had large chromosomal abnormalities in multiple chromosomes, including chromosome 22q. This study identifies a common cause for intraneural perineuriomas and an unexpected shared pathogenesis with intracranial meningiomas. Ann Neurol 2017;81:316-321.


Asunto(s)
Neoplasias de la Vaina del Nervio/genética , Péptidos y Proteínas Asociados a Receptores de Factores de Necrosis Tumoral/genética , Adolescente , Adulto , Niño , Preescolar , Exoma , Femenino , Genómica , Humanos , Masculino , Persona de Mediana Edad , Mutación
11.
J Neurol Neurosurg Psychiatry ; 89(6): 636-641, 2018 06.
Artículo en Inglés | MEDLINE | ID: mdl-29439162

RESUMEN

OBJECTIVE: To assess disease burden of chemotherapy-induced peripheral neuropathy (CIPN), which is a common dose-limiting side effect of neurotoxic chemotherapy. Late effects of CIPN may increase with improved cancer survival. METHODS: Olmsted County, Minnesota residents receiving neurotoxic chemotherapy were identified and CIPN was ascertained via text searches of polyneuropathy symptoms in the medical record. Clinical records were queried to collect data on baseline characteristics, risk factors, signs and symptoms of CIPN, medications, impairments and International Classification of Diseases, Ninth Revision (ICD-9) diagnostic codes for all subjects. RESULTS: A total of 509 individuals with incident exposure to an inclusive list of neurotoxic chemotherapy agents between 2006 and 2008 were identified. 268 (52.7%) of these individuals were determined to have CIPN. The median time from incident exposure to first documented symptoms was 71 days. Patients with CIPN received a neuropathy ICD-9 diagnosis in only 37 instances (13.8%). Pain symptoms and use of pain medications were observed more often in patients with CIPN. Five-year survival was greater in those with CIPN (55.2%) versus those without (36.1%). Those with CIPN surviving greater than 5 years (n=145) continued to have substantial impairments and were more likely to be prescribed opioids than those without CIPN (OR 2.0, 1.06-3.69). CONCLUSIONS: Results from our population-based study are consistent with previous reports of high incidence of CIPN in the first 2 years following incident exposure to neurotoxic chemotherapeutic agents, and its association with significant pain symptomatology and accompanied long-term opioid use. Increased survival following exposure to neurotoxic chemotherapy and its long-term disease burden necessitates further study among survivors.


Asunto(s)
Antineoplásicos/efectos adversos , Costo de Enfermedad , Enfermedades del Sistema Nervioso Periférico/inducido químicamente , Enfermedades del Sistema Nervioso Periférico/epidemiología , Adulto , Anciano , Estudios de Cohortes , Femenino , Humanos , Incidencia , Masculino , Persona de Mediana Edad , Minnesota , Estudios Retrospectivos , Factores de Riesgo
12.
Muscle Nerve ; 57(6): 989-993, 2018 06.
Artículo en Inglés | MEDLINE | ID: mdl-29315664

RESUMEN

INTRODUCTION: The objective of this study was to answer the typical questions from patients regarding the likely neurologic outcome and likelihood of recurrence when discussing peroneal intraneural ganglion cysts preoperatively. METHODS: Retrospective analysis of all patients who underwent surgery for a peroneal intraneural ganglion cyst between January 1, 2000, and April 1, 2017, was performed. Postoperative neurologic outcomes and radiologic recurrences are reported. RESULTS: There were 65 patients. Average clinical follow-up was 14 months. Median dorsiflexion and eversion preoperatively were 2/5 and 4/5, respectively. Median dorsiflexion and eversion at last follow-up postoperatively were 5/5. Radiologic recurrence occurred in 6 (9%) patients, all extraneural. DISCUSSION: The data support excellent postoperative motor outcomes, despite frequent dense weakness of peroneal-innervated musculature preoperatively. The surgical approach appears to eliminate risk of intraneural recurrence and minimizes risk of extraneural recurrence. Muscle Nerve 57: 989-993, 2018.


Asunto(s)
Ganglión/cirugía , Articulación de la Rodilla/cirugía , Nervio Peroneo/cirugía , Adolescente , Adulto , Anciano , Niño , Femenino , Humanos , Masculino , Persona de Mediana Edad , Resultado del Tratamiento , Adulto Joven
13.
Muscle Nerve ; 57(1): E8-E13, 2018 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-28646568

RESUMEN

INTRODUCTION: In polyradiculoneuropathy-organomegaly-endocrinopathy-monoclonal protein-skin changes (POEMS) and chronic inflammatory demyelinating polyradiculoneuropathy (CIDP), limb nerve conduction studies (NCSs) are limited in identifying demyelination and in detecting treatment effects in severely affected patients. Blink R1 latency may improve these assessments. METHODS: POEMS and CIDP patients who had undergone NCS and blink reflex were identified. Correlations among R1 latency, limb NCS, and neuropathy impairment scores (NIS) were compared. RESULTS: Among 182 patients (124 POEMS, 58 CIDP) who were identified, R1 prolongation (>13 ms) occurred in 64.3% (65.3% POEMS, 62.1% CIDP). R1 prolongation correlated with more severely affected NCS in both POEMS (ulnar CMAP 2.6 mV vs. 4.5 mV, P = 0.001) and CIDP (2.0 mV vs. 6.1 mV, P < 0.001). In severely affected patients (ulnar CMAP ≤0.5 mV [10%:18/182]), R1 (>13 ms) helped establish demyelination. In 31 patients (16 POEMS, 15 CIDP), the R1 latency changes were concordant with NIS changes in 94% of patients with POEMS and 60% of patients with CIDP. DISCUSSION: Blink R1 latencies are valuable in defining demyelination and detecting improvement in severely affected POEMS and CIDP patients. Muscle Nerve 57: E8-E13, 2018.


Asunto(s)
Parpadeo , Síndrome POEMS/diagnóstico , Síndrome POEMS/fisiopatología , Polirradiculoneuropatía Crónica Inflamatoria Desmielinizante/diagnóstico , Polirradiculoneuropatía Crónica Inflamatoria Desmielinizante/fisiopatología , Adulto , Diagnóstico Diferencial , Femenino , Estudios de Seguimiento , Humanos , Masculino , Persona de Mediana Edad , Enfermedades del Sistema Nervioso/etiología , Enfermedades del Sistema Nervioso/fisiopatología , Conducción Nerviosa , Examen Neurológico , Síndrome POEMS/terapia , Polirradiculoneuropatía Crónica Inflamatoria Desmielinizante/terapia , Reproducibilidad de los Resultados , Estudios Retrospectivos , Trasplante de Células Madre , Resultado del Tratamiento , Nervio Cubital/fisiopatología
14.
Muscle Nerve ; 57(6): 1000-1005, 2018 06.
Artículo en Inglés | MEDLINE | ID: mdl-29272035

RESUMEN

INTRODUCTION: Multifocal motor neuropathy (MMN) is a motor only, asymmetric onset neuropathy that is relatively treatment-refractory compared with classic chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) and multifocal acquired demyelinating sensory and motor (MADSAM) neuropathy. METHODS: We reviewed 35 patients seropositive for GM1 (monosialo-asialo [immunoglobulin M, IgM; immunoglobulin G, IgG]) and/or GD1b (disialo [IgG, IgM]) autoantibodies having MMN, classic CIDP, or MADSAM. Immune-treatment responsiveness and clinical course was compared with antibody negative disease controls. RESULTS: Seventy-nine percent of seropositives with an initial diagnosis of MMN were immunotherapy responsive compared with 46% of seronegatives (P = 0.045). Eight ganglioside antibody positive MMN patients of 19 (42%) developed sensory findings consistent with MADSAM compared with 3 of 41 (7%) seronegative MMN patients (P = 0.003). MMN and MADSAM patients with ganglioside antibody positivity had more sustained treatment responses (P = 0.03). DISCUSSION: Patients initially diagnosed with MMN seropositive for diverse GM1 autoantibodies appear more likely to have sustained treatment response and evolution to MADSAM. Muscle Nerve 57: 1000-1005, 2018.


Asunto(s)
Autoanticuerpos/inmunología , Gangliósidos/inmunología , Inmunoglobulina G/inmunología , Inmunoglobulina M/inmunología , Polirradiculoneuropatía Crónica Inflamatoria Desmielinizante/inmunología , Humanos , Inmunoglobulinas Intravenosas/uso terapéutico , Inmunosupresores/uso terapéutico , Ácido Micofenólico/uso terapéutico , Polirradiculoneuropatía Crónica Inflamatoria Desmielinizante/tratamiento farmacológico , Rituximab/uso terapéutico , Resultado del Tratamiento
15.
Ann Neurol ; 80(3): 401-11, 2016 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-27422051

RESUMEN

OBJECTIVE: To systematically compare transthyretin with primary amyloid neuropathy to define their natural history and the underlying mechanisms for differences in phenotype and natural history. METHODS: All patients with defined amyloid subtype and peripheral neuropathy who completed autonomic testing and electromyography at Mayo Clinic Rochester between 1993 and 2013 were included. Medical records were reviewed for time of onset of defined clinical features. The degree of autonomic impairment was quantified using the composite autonomic severity scale. Comparisons were made between acquired and inherited forms of amyloidosis. RESULTS: One hundred one cases of amyloidosis with peripheral neuropathy were identified, 60 primary and 41 transthyretin. Twenty transthyretin cases were found to have Val30Met mutations; 21 had other mutations. Compared to primary cases, transthyretin cases had longer survival, longer time to diagnosis, higher composite autonomic severity scale scores, greater reduction of upper limb nerve conduction study amplitudes, more frequent occurrence of weakness, and later non-neuronal systemic involvement. Four systemic markers (cardiac involvement by echocardiogram, weight loss > 10 pounds, orthostatic intolerance, fatigue) in combination were highly predictive of poor survival in both groups. INTERPRETATION: These findings suggest that transthyretin has earlier and greater predilection for neural involvement and more delayed systemic involvement. The degree and rate of systemic involvement is most closely related to prognosis. Ann Neurol 2016;80:401-411.


Asunto(s)
Neuropatías Amiloides/metabolismo , Neuropatías Amiloides/fisiopatología , Amiloide/metabolismo , Prealbúmina/metabolismo , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Mutación , Fenotipo , Prealbúmina/genética , Pronóstico , Estudios Retrospectivos
17.
Muscle Nerve ; 56(5): 901-911, 2017 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-28063170

RESUMEN

INTRODUCTION: Polyneuropathy signs (Neuropathy Impairment Score, NIS), neurophysiologic tests (m+7Ionis ), disability, and health scores were assessed in baseline evaluations of 100 patients entered into an oligonucleotide familial amyloidotic polyneuropathy (FAP) trial. METHODS: We assessed: (1) Proficiency of grading neurologic signs and correlation with neurophysiologic tests, and (2) clinometric performance of modified NIS+7 neurophysiologic tests (mNIS+7Ionis ) and its subscores and correlation with disability and health scores. RESULTS: The mNIS+7Ionis sensitively detected, characterized, and broadly scaled diverse polyneuropathy impairments. Polyneuropathy signs (NIS and subscores) correlated with neurophysiology tests, disability, and health scores. Smart Somatotopic Quantitative Sensation Testing of heat as pain 5 provided a needed measure of small fiber involvement not adequately assessed by other tests. CONCLUSIONS: Specially trained neurologists accurately assessed neuropathy signs as compared to referenced neurophysiologic tests. The score, mNIS+7Ionis , broadly detected, characterized, and scaled polyneuropathy abnormality in FAP, which correlated with disability and health scores. Muscle Nerve 56: 901-911, 2017.


Asunto(s)
Neuropatías Amiloides Familiares/tratamiento farmacológico , Técnicas de Diagnóstico Neurológico , Neurólogos , Oligonucleótidos/uso terapéutico , Índice de Severidad de la Enfermedad , Adulto , Anciano , Anciano de 80 o más Años , Neuropatías Amiloides Familiares/diagnóstico , Neuropatías Amiloides Familiares/fisiopatología , Estudios de Cohortes , Evaluación de la Discapacidad , Femenino , Humanos , Cooperación Internacional , Masculino , Persona de Mediana Edad , Conducción Nerviosa/efectos de los fármacos , Conducción Nerviosa/fisiología , Evaluación de Resultado en la Atención de Salud
18.
Skeletal Radiol ; 46(6): 817-823, 2017 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-28343327

RESUMEN

Polyneuropathy, organomegaly, endocrinopathy, M protein, and skin changes (POEMS) syndrome, a form of osteosclerotic myeloma, is a multisystem disease related to a monoclonal plasma cell proliferative disorder. Osseous lesions are most commonly sclerotic on radiographs and computed tomography (CT), demonstrate low T1 and T2 signal intensity on magnetic resonance imaging (MRI), and have variable degrees of avidity on positon emission tomography (PET) imaging using 18-fluorodeoxyglucose (18F-FDG). We present three cases of POEMS syndrome manifesting as osteolytic lesions with indolent features, including well-defined thin sclerotic rims, no cortical disruption or periosteal reaction, no associated soft-tissue mass, and a periarticular location, all features that could lead to misinterpretation as benign bone lesions. We also report increased T1 signal and diffuse solid enhancement of these lesions on MRI, features previously unreported. POEMS syndrome should not be discounted as a diagnostic consideration in the setting of osteolytic lesions with non-aggressive imaging characteristics on radiographs or CT, especially in the presence of other supportive clinical features.


Asunto(s)
Neoplasias Óseas/complicaciones , Neoplasias Óseas/diagnóstico por imagen , Imagen por Resonancia Magnética , Síndrome POEMS/complicaciones , Tomografía Computarizada por Tomografía de Emisión de Positrones , Adulto , Anciano , Huesos/diagnóstico por imagen , Diagnóstico Diferencial , Fluorodesoxiglucosa F18 , Humanos , Masculino , Persona de Mediana Edad , Radiofármacos
19.
Muscle Nerve ; 54(5): 973-977, 2016 11.
Artículo en Inglés | MEDLINE | ID: mdl-27251375

RESUMEN

INTRODUCTION: Distal acquired demyelinating symmetric (DADS) neuropathy is a distal variant of chronic inflammatory demyelinating polyradiculoneuropathy. It is characterized by chronic distal symmetric sensory or sensorimotor deficits. Sensory ataxia is a common clinical presentation. Nerve conduction studies typically show markedly prolonged distal motor latencies. METHODS: We report 2 patients with chronic progressive generalized pain and fatigue, with normal neurological examinations except for allodynia. RESULTS: Nerve conduction studies were typical of DADS neuropathy. Monoclonal protein studies were negative. Cerebrospinal fluid protein levels were elevated. Sural nerve biopsies revealed segmental demyelination and remyelination. One biopsy had marked endoneurial and epineurial lymphocytic infiltration. Immunomodulatory therapy alleviated the pain and fatigue and markedly improved distal motor latencies in both patients. CONCLUSIONS: DADS neuropathy can present with pain and a normal neurological examination apart from allodynia. Nerve conduction studies are necessary for diagnosis. These patients respond to immunotherapy better than typical DADS neuropathy patients with sensory ataxia. Muscle Nerve 54: 973-977, 2016.


Asunto(s)
Enfermedades Desmielinizantes/terapia , Inmunoterapia/métodos , Polirradiculoneuropatía/inmunología , Polirradiculoneuropatía/terapia , Adulto , Enfermedades Desmielinizantes/complicaciones , Femenino , Humanos , Persona de Mediana Edad , Fibras Nerviosas/patología , Fibras Nerviosas/ultraestructura , Conducción Nerviosa/fisiología , Polirradiculoneuropatía/complicaciones , Polirradiculoneuropatía/patología
20.
Muscle Nerve ; 54(1): 94-9, 2016 06.
Artículo en Inglés | MEDLINE | ID: mdl-26574898

RESUMEN

INTRODUCTION: Valosin containing protein (VCP) mutations cause a rare disorder characterized by hereditary inclusion body myopathy, Paget disease of bone (PDB), and frontotemporal dementia (FTD) with variable penetrance. VCP mutations have also been linked to amyotrophic lateral sclerosis and Charcot-Marie-Tooth disease type 2. METHODS: Review of clinical, serological, electrophysiological, and myopathological findings of 6 VCP-opathy patients from 4 unrelated families. RESULTS: Patients manifested muscle weakness between ages 40 and 53 years and developed predominant asymmetric limb girdle weakness. One patient had distal weakness at onset and co-existing peripheral neuropathy. Another patient had PDB, 1 had mild cognitive deficits, and 1 had FTD. All patients had myopathic and neurogenic electromyographic findings with predominant neurogenic changes in 2. Rimmed vacuoles were infrequent, while neurogenic changes were prominent in muscle biopsies. CONCLUSIONS: VCP-opathy is a multifaceted disorder in which myopathy and peripheral neuropathy can coexist. The electrophysiological and pathological neurogenic changes raise the possibility of coexisting motor neuron involvement. Muscle Nerve, 2015 Muscle Nerve 54: 94-99, 2016 Muscle Nerve 54: 94-99, 2016.


Asunto(s)
Adenosina Trifosfatasas/genética , Proteínas de Ciclo Celular/genética , Demencia Frontotemporal/genética , Mutación/genética , Osteítis Deformante/genética , Adulto , Salud de la Familia , Femenino , Demencia Frontotemporal/patología , Humanos , Masculino , Persona de Mediana Edad , Músculo Esquelético/metabolismo , Osteítis Deformante/patología , Proteína que Contiene Valosina
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