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1.
Muscle Nerve ; 63(3): 294-303, 2021 03.
Artículo en Inglés | MEDLINE | ID: mdl-33471383

RESUMEN

The clinical course of neuromuscular disorders (NMDs) can be affected by infections, both in immunocompetent individuals, and in those with reduced immunocompetence due to immunosuppressive/immunomodulating therapies. Infections and immunizations may also trigger NMDs. There is a potential for reduced efficacy of immunizations in patients with reduced immunocompetence. The recent vaccination program for coronavirus disease-2019 (COVID-19) raises several questions regarding the safety and efficacy of this vaccine in individuals with NMDs. In this Practice Topic article, we address the role of vaccine-preventable infections in NMDs and the safety and efficacy of immunization in individuals with NMDs, with emphasis on vaccination against COVID-19.


Asunto(s)
Vacunas contra la COVID-19/uso terapéutico , COVID-19/prevención & control , Inmunosupresores/efectos adversos , Enfermedades Neuromusculares/terapia , Enfermedades Prevenibles por Vacunación/prevención & control , COVID-19/complicaciones , COVID-19/epidemiología , COVID-19/inmunología , Síndrome de Guillain-Barré/epidemiología , Síndrome de Guillain-Barré/etiología , Humanos , Inmunocompetencia/inmunología , Huésped Inmunocomprometido/inmunología , Factores Inmunológicos/efectos adversos , Enfermedades Neuromusculares/epidemiología , Enfermedades Neuromusculares/inmunología , SARS-CoV-2 , Vacunas Atenuadas/uso terapéutico , Vacunas de Productos Inactivados/uso terapéutico
2.
Muscle Nerve ; 57(5): 772-776, 2018 05.
Artículo en Inglés | MEDLINE | ID: mdl-29053882

RESUMEN

INTRODUCTION: Since the late 1980s, critical illness myopathy (CIM) and critical illness polyneuropathy (CIP) have been increasingly recognized in the intensive care unit (ICU). We explored whether these causes of ICU weakness were now more likely to lead to electrodiagnostic studies (EDX) at our institution than they were 19-20 years earlier. METHODS: We reviewed 100 consecutive ICU patients who underwent EDX from 2009 to 2015 and compared them to a previously reported study population from 1990-1995. RESULTS: Thirty-seven (39%) had CIM, CIP, or both versus 55% in the previous study (P = 0.04). Thirty-four (36%) were diagnosed with "traditional" pre-ICU causes of weakness, such as motor neuron disease or Guillain-Barre syndrome, versus 29% in the earlier study (P = 0.3). DISCUSSION: CIM and CIP continue to be common disorders that lead to ICU EDX, but their proportion declined compared with 19-20 years earlier, possibly due to the perceived role and selective use of EDX in the ICU. Muscle Nerve 57: 772-776, 2018.


Asunto(s)
Electrodiagnóstico/métodos , Unidades de Cuidados Intensivos , Enfermedades Musculares/diagnóstico , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Unidades de Cuidados Intensivos/estadística & datos numéricos , Estudios Longitudinales , Masculino , Persona de Mediana Edad
3.
J Clin Neuromuscul Dis ; 25(3): 152-156, 2024 Mar 01.
Artículo en Inglés | MEDLINE | ID: mdl-38441936

RESUMEN

ABSTRACT: Hereditary neuropathies are typically associated with an early onset of symptoms, but same types of neuropathies may also manifest late, after the age 50 years. A 62-year-old African American woman presented with a 6-year history of gait unsteadiness and has been using a walker since the age 57 years after an unwitnessed fall. Gradual worsening of walking difficulties was later followed by decreased dexterity. The family history was negative for neuromuscular disorders, including neuropathy. On examination, the patient had both distal and proximal weakness with distal sensory loss to all modalities and hyporeflexia. Charcot Marie Tooth Examination Score was 12. Previous electrodiagnostic testing at the age 60 years showed severe sensorimotor demyelinating polyneuropathy with bilateral severe carpal tunnel syndrome. Genetic testing showed a homozygous pathogenic mutation in SH3TC2 gene (c.2860C>T; p.Arg954*), associated with CMT4C. CMT4C is the most common recessive demyelinating sensorimotor polyneuropathy and overall comprises 0.4%-1.7% of all patients with Charcot-Marie-Tooth disease. It is more common in French Canadians and Spanish Roma and in recent natural history study; only 1 of 56 patients was African American. This report demonstrates sporadic occurrence of CMT4C in other ethnic groups as well.


Asunto(s)
Síndrome del Túnel Carpiano , Enfermedad de Charcot-Marie-Tooth , Pueblos de América del Norte , Femenino , Humanos , Persona de Mediana Edad , Negro o Afroamericano , Enfermedad de Charcot-Marie-Tooth/complicaciones , Enfermedad de Charcot-Marie-Tooth/genética
4.
Front Cardiovasc Med ; 11: 1345608, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38410247

RESUMEN

Transthyretin amyloidosis (ATTR) is a condition defined by accumulation of insoluble transthyretin amyloid deposits in multiple organs, especially in the peripheral nerve and heart muscle. ATTR may result from transthyretin mutations (variant ATTR or ATTRv) or may occur with normal transthyretin genotype (wild type ATTR or ATTRwt). ATTRwt was previously known as "senile amyloidosis" and causes cardiomyopathy which may lead to heart failure with a preserved ejection fraction, affecting predominantly elderly men. The exact prevalence of ATTRwt in the general population remains unclear, but its occurrence may be underestimated in women. It was observed that a proportion of ATTRwt cardiomyopathy patients may develop slowly progressing neuropathy that is milder and indolent in comparison with typical progressive neuropathy associated with ATTRv. Furthermore, the causality of neuropathy is often uncertain in patients with ATTRwt. Neuropathy symptoms, including distal sensory loss, unsteadiness and (neuropathic) pain are common in elderly patients with multiple potential causes, and as ATTRwt patients are typically older, relatively high prevalence of peripheral neuropathy is expected with frequent comorbidities. Relatively high prevalence of ATTRwt in elderly population contrasts few documented cases of neuropathy caused by ATTRwt, and there is uncertainty whether ATTRwt neuropathy is an infrequent occurrence or a significant manifestation of multisystemic ATTRwt. We review neurologic and musculoskeletal manifestations of ATTRwt and present clinical features of a single center cohort of ATTRwt patients with suspected peripheral neuropathy.

5.
Neurology ; 100(23): e2386-e2397, 2023 06 06.
Artículo en Inglés | MEDLINE | ID: mdl-37076309

RESUMEN

BACKGROUND AND OBJECTIVES: To investigate CSF findings in relation to clinical and electrodiagnostic subtypes, severity, and outcome of Guillain-Barré syndrome (GBS) based on 1,500 patients in the International GBS Outcome Study. METHODS: Albuminocytologic dissociation (ACD) was defined as an increased protein level (>0.45 g/L) in the absence of elevated white cell count (<50 cells/µL). We excluded 124 (8%) patients because of other diagnoses, protocol violation, or insufficient data. The CSF was examined in 1,231 patients (89%). RESULTS: In 846 (70%) patients, CSF examination showed ACD, which increased with time from weakness onset: ≤4 days 57%, >4 days 84%. High CSF protein levels were associated with a demyelinating subtype, proximal or global muscle weakness, and a reduced likelihood of being able to run at week 2 (odds ratio [OR] 0.42, 95% CI 0.25-0.70; p = 0.001) and week 4 (OR 0.44, 95% CI 0.27-0.72; p = 0.001). Patients with the Miller Fisher syndrome, distal predominant weakness, and normal or equivocal nerve conduction studies were more likely to have lower CSF protein levels. CSF cell count was <5 cells/µL in 1,005 patients (83%), 5-49 cells/µL in 200 patients (16%), and ≥50 cells/µL in 13 patients (1%). DISCUSSION: ACD is a common finding in GBS, but normal protein levels do not exclude this diagnosis. High CSF protein level is associated with an early severe disease course and a demyelinating subtype. Elevated CSF cell count, rarely ≥50 cells/µL, is compatible with GBS after a thorough exclusion of alternative diagnoses. CLASSIFICATION OF EVIDENCE: This study provides Class IV evidence that CSF ACD (defined by the Brighton Collaboration) is common in patients with GBS.


Asunto(s)
Síndrome de Guillain-Barré , Adulto , Femenino , Humanos , Masculino , Persona de Mediana Edad , Recuento de Células , Líquido Cefalorraquídeo/citología , Estudios de Cohortes , Progresión de la Enfermedad , Síndrome de Guillain-Barré/líquido cefalorraquídeo , Síndrome de Guillain-Barré/diagnóstico , Síndrome de Guillain-Barré/patología , Síndrome de Guillain-Barré/fisiopatología , Internacionalidad , Síndrome de Miller Fisher/líquido cefalorraquídeo , Síndrome de Miller Fisher/diagnóstico , Síndrome de Miller Fisher/patología , Síndrome de Miller Fisher/fisiopatología , Pronóstico , Resultado del Tratamiento
6.
Acta Neuropathol Commun ; 5(1): 96, 2017 Dec 07.
Artículo en Inglés | MEDLINE | ID: mdl-29216908

RESUMEN

Mutations in the stress granule protein T-cell restricted intracellular antigen 1 (TIA1) were recently shown to cause amyotrophic lateral sclerosis (ALS) with or without frontotemporal dementia (FTD). Here, we provide detailed clinical and neuropathological descriptions of nine cases with TIA1 mutations, together with comparisons to sporadic ALS (sALS) and ALS due to repeat expansions in C9orf72 (C9orf72+). All nine patients with confirmed mutations in TIA1 were female. The clinical phenotype was heterogeneous with a range in the age at onset from late twenties to the eighth decade (mean = 60 years) and disease duration from one to 6 years (mean = 3 years). Initial presentation was either focal weakness or language impairment. All affected individuals received a final diagnosis of ALS with or without FTD. No psychosis or parkinsonism was described. Neuropathological examination on five patients found typical features of ALS and frontotemporal lobar degeneration (FTLD-TDP, type B) with anatomically widespread TDP-43 proteinopathy. In contrast to C9orf72+ cases, caudate atrophy and hippocampal sclerosis were not prominent. Detailed evaluation of the pyramidal motor system found a similar degree of neurodegeneration and TDP-43 pathology as in sALS and C9orf72+ cases; however, cases with TIA1 mutations had increased numbers of lower motor neurons containing round eosinophilic and Lewy body-like inclusions on HE stain and round compact cytoplasmic inclusions with TDP-43 immunohistochemistry. Immunohistochemistry and immunofluorescence failed to demonstrate any labeling of inclusions with antibodies against TIA1. In summary, our TIA1 mutation carriers developed ALS with or without FTD, with a wide range in age at onset, but without other neurological or psychiatric features. The neuropathology was characterized by widespread TDP-43 pathology, but a more restricted pattern of neurodegeneration than C9orf72+ cases. Increased numbers of round eosinophilic and Lewy-body like inclusions in lower motor neurons may be a distinctive feature of ALS caused by TIA1 mutations.


Asunto(s)
Esclerosis Amiotrófica Lateral/genética , Esclerosis Amiotrófica Lateral/patología , Demencia Frontotemporal/genética , Demencia Frontotemporal/patología , Mutación/genética , Antígeno Intracelular 1 de las Células T/genética , Adulto , Anciano , Esclerosis Amiotrófica Lateral/complicaciones , Autopsia , Proteína C9orf72/genética , Proteínas de Unión al ADN/metabolismo , Salud de la Familia , Femenino , Demencia Frontotemporal/complicaciones , Humanos , Masculino , Persona de Mediana Edad , Neuropatología
7.
Neuron ; 95(4): 808-816.e9, 2017 Aug 16.
Artículo en Inglés | MEDLINE | ID: mdl-28817800

RESUMEN

Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are age-related neurodegenerative disorders with shared genetic etiologies and overlapping clinical and pathological features. Here we studied a novel ALS/FTD family and identified the P362L mutation in the low-complexity domain (LCD) of T cell-restricted intracellular antigen-1 (TIA1). Subsequent genetic association analyses showed an increased burden of TIA1 LCD mutations in ALS patients compared to controls (p = 8.7 × 10-6). Postmortem neuropathology of five TIA1 mutations carriers showed a consistent pathological signature with numerous round, hyaline, TAR DNA-binding protein 43 (TDP-43)-positive inclusions. TIA1 mutations significantly increased the propensity of TIA1 protein to undergo phase transition. In live cells, TIA1 mutations delayed stress granule (SG) disassembly and promoted the accumulation of non-dynamic SGs that harbored TDP-43. Moreover, TDP-43 in SGs became less mobile and insoluble. The identification of TIA1 mutations in ALS/FTD reinforces the importance of RNA metabolism and SG dynamics in ALS/FTD pathogenesis.


Asunto(s)
Esclerosis Amiotrófica Lateral/genética , Esclerosis Amiotrófica Lateral/patología , Demencia Frontotemporal/genética , Demencia Frontotemporal/patología , Mutación/genética , Proteínas de Unión a Poli(A)/genética , Adulto , Anciano , Proteínas de Unión al ADN/metabolismo , Salud de la Familia , Femenino , Proteínas Fluorescentes Verdes/genética , Proteínas Fluorescentes Verdes/metabolismo , Células HeLa , Ribonucleoproteína Nuclear Heterogénea A1 , Ribonucleoproteína Heterogénea-Nuclear Grupo A-B/metabolismo , Humanos , Masculino , Microscopía Confocal , Persona de Mediana Edad , Proteína FUS de Unión a ARN/metabolismo , Estrés Fisiológico/fisiología , Antígeno Intracelular 1 de las Células T , Factores de Tiempo , Transfección
8.
Neurologist ; 8(2): 107-20, 2002 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-12803696

RESUMEN

BACKGROUND: Organ transplantation is one of the most dynamic fields in medicine and has evolved into a life-saving option for thousands of patients with previously fatal conditions. The posttransplantation clinical course is frequently associated with neurologic complications that are usually related to pretransplant morbidity, the surgical procedure of transplantation, immunosuppression, and opportunistic infection. REVIEW SUMMARY: Neurologic complications of organ transplantation may be divided into complications common to all types of allografts and complications that are specific for a particular type of organ transplantation. The most common complications include seizures, opportunistic central nervous system (CNS) infection, metabolic encephalopathy, stroke, intracranial hemorrhage, and drug-related adverse events. Opportunistic CNS infection may have a subtle presentation and should not be overlooked, as the consequences of delayed treatment may be grave. Neurotoxicity of immunosuppressive agents is also a frequent cause of neurologic complications and may occur in the setting of normal serum drug levels. The clinical course of transplant patients is frequently complex, requiring close cooperation between the transplant team and specialty consultants. Prolonged survival of transplant patients will shift the focus of neurologic complications from acute, perioperative to chronic complications of immunosuppression. CONCLUSIONS: Neurologic complications of organ transplantation are commonly related to opportunistic infection or neurotoxicity of immunosuppressive agents, requiring careful titration of immunosuppression. Timely diagnosis of CNS infection or other causes of neurologic dysfunction may significantly improve recovery and outcome in these patients.

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