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1.
Int J Mol Sci ; 25(3)2024 Jan 29.
Artículo en Inglés | MEDLINE | ID: mdl-38338934

RESUMEN

Charcot-Marie-Tooth disease (CMT) rarely presents with painful symptoms, which mainly occur in association with myelin protein zero (MPZ) gene mutations. We aimed to further characterize the features of painful neuropathic phenotypes in MPZ-related CMT. We report on a 58-year-old woman with a longstanding history of intermittent migrant pain and dysesthesias. Examination showed minimal clinical signs of neuropathy along with mild changes upon electroneurographic examination, consistent with an intermediate pattern, and small-fiber loss upon skin biopsy. Genetic testing identified the heterozygous variant p.Trp101Ter in MPZ. We identified another 20 CMT patients in the literature who presented with neuropathic pain as a main feature in association with MPZ mutations, mostly in the extracellular MPZ domain; the majority of these patients showed late onset (14/20), with motor-nerve-conduction velocities predominantly in the intermediate range (12/20). It is hypothesized that some MPZ mutations could manifest with, or predispose to, neuropathic pain. However, the mechanisms linking MPZ mutations and pain-generating nerve changes are unclear, as are the possible role of modifier factors. This peculiar CMT presentation may be diagnostically misleading, as it is suggestive of an acquired pain syndrome rather than of an inherited neuropathy.


Asunto(s)
Enfermedad de Charcot-Marie-Tooth , Neuralgia , Neuropatía de Fibras Pequeñas , Femenino , Humanos , Persona de Mediana Edad , Enfermedad de Charcot-Marie-Tooth/diagnóstico , Enfermedad de Charcot-Marie-Tooth/genética , Proteína P0 de la Mielina/genética , Mutación , Pruebas Genéticas , Neuralgia/etiología , Neuralgia/genética , Neuropatía de Fibras Pequeñas/genética
3.
Front Neurol ; 14: 1281953, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-38304327

RESUMEN

Limb-girdle muscular dystrophy autosomal recessive 8 (LGMDR8) is a rare clinical manifestation caused by the presence of biallelic variants in the TRIM32 gene. We present the clinical, molecular, histopathological, and muscle magnetic resonance findings of a novel 63-years-old LGMDR8 patient of Italian origins, who went undiagnosed for 24 years. Clinical exome sequencing identified two TRIM32 missense variants, c.1181G > A p.(Arg394His) and c.1781G > A p.(Ser594Asp), located in the NHL1 and NHL4 structural domains, respectively, of the TRIM32 protein. We conducted a literature review of the clinical and instrumental data associated to the so far known 26 TRIM32 variants, carried biallelically by 53 LGMDR8 patients reported to date in 20 papers. Our proband's variants were previously identified only in three independent LGMDR8 patients in homozygosis, therefore our case is the first in literature to be described as compound heterozygous for such variants. Our report also provides additional data in support of their pathogenicity, since p.(Arg394His) is currently classified as a variant of uncertain significance, while p.(Ser594Asp) as likely pathogenic. Taken together, these findings might be useful to improve both the genetic counseling and the diagnostic accuracy of this rare neuromuscular condition.

4.
J Neurol Neurosurg Psychiatry ; 93(12): 1253-1261, 2022 12.
Artículo en Inglés | MEDLINE | ID: mdl-36220341

RESUMEN

BACKGROUND: Natural history of spinal muscular atrophy (SMA) in adult age has not been fully elucidated yet, including factors predicting disease progression and response to treatments. Aim of this retrospective, cross-sectional study, is to investigate motor function across different ages, disease patterns and gender in adult SMA untreated patients. METHODS: Inclusion criteria were as follows: (1) clinical and molecular diagnosis of SMA2, SMA3 or SMA4 and (2) clinical assessments performed in adult age (>18 years). RESULTS: We included 64 (38.8%) females and 101 (61.2%) males (p=0.0025), among which 21 (12.7%) SMA2, 141 (85.5%) SMA3 and 3 (1.8%) SMA4. Ratio of sitters/walkers within the SMA3 subgroup was significantly (p=0.016) higher in males (46/38) than in females (19/38). Median age at onset was significantly (p=0.0071) earlier in females (3 years; range 0-16) than in males (4 years; range 0.3-28), especially in patients carrying 4 SMN2 copies. Median Hammersmith Functional Rating Scale Expanded scores were significantly (p=0.0040) lower in males (16, range 0-64) than in females (40, range 0-62); median revised upper limb module scores were not significantly (p=0.059) different between males (24, 0-38) and females (33, range 0-38), although a trend towards worse performance in males was observed. In SMA3 patients carrying three or four SMN2 copies, an effect of female sex in prolonging ambulation was statistically significant (p=0.034). CONCLUSIONS: Our data showed a relevant gender effect on SMA motor function with higher disease severity in males especially in the young adult age and in SMA3 patients.


Asunto(s)
Atrofia Muscular Espinal , Atrofias Musculares Espinales de la Infancia , Adulto Joven , Masculino , Humanos , Femenino , Preescolar , Adolescente , Atrofias Musculares Espinales de la Infancia/epidemiología , Atrofias Musculares Espinales de la Infancia/genética , Atrofias Musculares Espinales de la Infancia/tratamiento farmacológico , Estudios Transversales , Estudios Retrospectivos , Atrofia Muscular Espinal/epidemiología , Atrofia Muscular Espinal/genética , Progresión de la Enfermedad
5.
Muscle Nerve ; 65(1): 10-28, 2022 01.
Artículo en Inglés | MEDLINE | ID: mdl-34374103

RESUMEN

The clinical spectrum of small fiber neuropathy (SFN) encompasses manifestations related to the involvement of thinly myelinated A-delta and unmyelinated C fibers, including not only the classical distal phenotype, but also a non-length-dependent (NLD) presentation that can be patchy, asymmetrical, upper limb-predominant, or diffuse. This narrative review is focused on NLD-SFN. The diagnosis of NLD-SFN can be problematic, due to its varied and often atypical presentation, and diagnostic criteria developed for distal SFN are not suitable for NLD-SFN. The topographic pattern of NLD-SFN is likely related to ganglionopathy restricted to the small neurons of dorsal root ganglia. It is often associated with systemic diseases, but about half the time is idiopathic. In comparison with distal SFN, immune-mediated diseases are more common than dysmetabolic conditions. Treatment is usually based on the management of neuropathic pain. Disease-modifying therapy, including immunotherapy, may be effective in patients with identified causes. Future research on NLD-SFN is expected to further clarify the interconnected aspects of phenotypic characterization, diagnostic criteria, and pathophysiology.


Asunto(s)
Neuralgia , Neuropatía de Fibras Pequeñas , Ganglios Espinales , Humanos , Fibras Nerviosas Amielínicas , Neuralgia/diagnóstico , Neuralgia/etiología , Neuralgia/terapia , Neuropatía de Fibras Pequeñas/diagnóstico , Neuropatía de Fibras Pequeñas/etiología , Neuropatía de Fibras Pequeñas/terapia
7.
J Neurol Neurosurg Psychiatry ; 91(11): 1166-1174, 2020 11.
Artículo en Inglés | MEDLINE | ID: mdl-32917822

RESUMEN

OBJECTIVE: To retrospectively investigate safety and efficacy of nusinersen in a large cohort of adult Italian patients with spinal muscular atrophy (SMA). METHODS: Inclusion criteria were: (1) clinical and molecular diagnosis of SMA2 or SMA3; (2) nusinersen treatment started in adult age (>18 years); (3) clinical data available at least at baseline (T0-beginning of treatment) and 6 months (T6). RESULTS: We included 116 patients (13 SMA2 and 103 SMA3) with median age at first administration of 34 years (range 18-72). The Hammersmith Functional Rating Scale Expanded (HFMSE) in patients with SMA3 increased significantly from baseline to T6 (median change +1 point, p<0.0001), T10 (+2, p<0.0001) and T14 (+3, p<0.0001). HFMSE changes were independently significant in SMA3 sitter and walker subgroups. The Revised Upper Limb Module (RULM) in SMA3 significantly improved between T0 and T14 (median +0.5, p=0.012), with most of the benefit observed in sitters (+2, p=0.018). Conversely, patients with SMA2 had no significant changes of median HFMSE and RULM between T0 and the following time points, although a trend for improvement of RULM was observed in those with some residual baseline function. The rate of patients showing clinically meaningful improvements (as defined during clinical trials) increased from 53% to 69% from T6 to T14. CONCLUSIONS: Our data provide further evidence of nusinersen safety and efficacy in adult SMA2 and SMA3, with the latter appearing to be cumulative over time. In patients with extremely advanced disease, effects on residual motor function are less clear.


Asunto(s)
Oligonucleótidos Antisentido/uso terapéutico , Oligonucleótidos/uso terapéutico , Atrofias Musculares Espinales de la Infancia/tratamiento farmacológico , Adolescente , Adulto , Edad de Inicio , Anciano , Estudios de Cohortes , Femenino , Volumen Espiratorio Forzado , Estado Funcional , Humanos , Inyecciones Espinales , Italia , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Sedestación , Atrofias Musculares Espinales de la Infancia/fisiopatología , Resultado del Tratamiento , Capacidad Vital , Prueba de Paso , Caminata , Adulto Joven
8.
J Clin Neurosci ; 69: 139-142, 2019 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-31439483

RESUMEN

BACKGROUND: The determinants of restless legs syndrome (RLS) occurring in co-morbid association with Parkinson's disease (PD) are currently unknown. METHODS: We performed a skin biopsy in proximal and distal sites of lower limbs in four PD patients, in which RLS had emerged in the pre-motor phase. RESULTS: A reduced somato-sensory intraepidermal nerve fiber (IENF) density mainly in the proximal sites, indicative of non-length-dependent small fiber pathology (SFP), was found in all patients, in absence of electroneurographic signs of large fiber neuropathy. DISCUSSION: The lack of known secondary causes of SFP is consistent with a process intrinsic to PD and, likewise, the absence of known disease conditions associated to RLS, would support the view of a link between the latter disorder and the distal axonopathy. The non-length-dependent pattern of SFP suggest an involvement of the somato-sensory dorsal root ganglia small neurons, consistent with a somato-sensory neuronopathy, which characterizes the RLS in these patients. CONCLUSION: If these findings will be confirmed in a larger cohort of patients, the RLS co-morbid with PD should be regarded as an heterogeneous condition, since the one emerging in the pre-motor phase might represent a prodromal feature of the neurodegenerative disease as an epiphenomenon of somato-sensory SFP. In contrast, for the RLS developing in clinically manifest PD, a possible association with the impairment of the DAergic diencephalo-spinal pathway and the induction by chronic DAergic treatment has been hypothesized.


Asunto(s)
Enfermedad de Parkinson/complicaciones , Síndrome de las Piernas Inquietas/complicaciones , Comorbilidad , Femenino , Humanos , Masculino , Persona de Mediana Edad , Síntomas Prodrómicos , Síndrome de las Piernas Inquietas/epidemiología
9.
Muscle Nerve ; 59(2): 244-246, 2019 02.
Artículo en Inglés | MEDLINE | ID: mdl-30265403

RESUMEN

INTRODUCTION: We sought to obtain normative values for radial nerve F-wave variables, recording with surface electrodes from the anconeus muscle. METHODS: We tested 30 healthy participants (17 women, 13 men) and measured the following variables: number of F waves/40 traces (F%); minimum, maximum, and mean F-wave latency (FMIN, FMAX, FMED, respectively); F-wave chronodispersion (FCHR); interside differences of F% and FMIN (DF% and DFMIN, respectively). RESULTS: The mean F% was 41.3%; the normative values of FMIN, FMED, FMAX, and FCHR were < 21.2, <22.1, <23.3, and < 4.0 ms, respectively; and normative values of DF% and DFMIN were < 16.6% and < 1.1 ms, respectively. Height was the sole independent predictor in a regression model of FMIN, FMED, and FMAX; this explained 37%-44% of the variability. DISCUSSION: We identified a feasible and useful technique to record radial nerve F waves from the anconeus muscle and obtained normative values of F-wave variables. Muscle Nerve 59:244-246, 2019.


Asunto(s)
Potenciales de Acción/fisiología , Músculo Esquelético/inervación , Conducción Nerviosa/fisiología , Nervio Radial/fisiología , Adolescente , Adulto , Anciano , Estimulación Eléctrica , Electrodos , Electromiografía , Femenino , Voluntarios Sanos , Humanos , Masculino , Persona de Mediana Edad , Valores de Referencia , Análisis de Regresión , Adulto Joven
10.
Ann Neurol ; 68(3): 404-8, 2010 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-20818794

RESUMEN

We investigated the pattern of volitional facial motor deficits in acute stroke patients. We assessed the strength of single facial movements and correlated it to the site of infarct classified on computed tomography scans. Exclusion criteria were previous stroke, cerebral hemorrhage, and subcortical stroke. Results showed that weakness in eyelid closure was associated with anterior cerebral artery (ACA) stroke. Weakness in lip opening was associated with middle cerebral artery (MCA) stroke. We suggest that sparing of upper facial movements in MCA stroke is due to the presence of an upper face motor representation in both the MCA and ACA territories.


Asunto(s)
Parálisis Facial/diagnóstico por imagen , Tomografía Computarizada por Rayos X/métodos , Adulto , Anciano , Anciano de 80 o más Años , Anticuerpos Monoclonales/efectos adversos , Anticuerpos Monoclonales Humanizados , ADN Viral/líquido cefalorraquídeo , Parálisis Facial/líquido cefalorraquídeo , Parálisis Facial/tratamiento farmacológico , Parálisis Facial/etiología , Femenino , Humanos , Virus JC/metabolismo , Leucoencefalopatía Multifocal Progresiva/inducido químicamente , Modelos Logísticos , Masculino , Persona de Mediana Edad , Movimiento/efectos de los fármacos , Natalizumab , Estadísticas no Paramétricas , Accidente Cerebrovascular/complicaciones
11.
Eur J Dermatol ; 20(4): 489-96, 2010.
Artículo en Inglés | MEDLINE | ID: mdl-20400392

RESUMEN

In our twenty years' experience of dermatological visits specifically for nail diseases, we saw 105 patients with pathologically proven nail lichen planus. We prescribed treatment to 75 of these patients and we report here the results of treatment. Twenty-seven of these patients were followed-up for more than 5 years (mean follow-up was 10 years): 9 of them (9/27 = 33.3%) did not respond to treatment with steroids (intramuscular or intralesional), 18 were cured (18/27 = 66.7%), 11 relapsed (11/27 = 40.7%). This study is important for the fact that no one has previously published the results of such a long follow-up of patients with nail lichen planus.


Asunto(s)
Liquen Plano/tratamiento farmacológico , Enfermedades de la Uña/tratamiento farmacológico , Esteroides/uso terapéutico , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Niño , Femenino , Estudios de Seguimiento , Humanos , Masculino , Persona de Mediana Edad , Recurrencia , Esteroides/administración & dosificación , Resultado del Tratamiento
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