A young Peruvian woman with a stairs conundrum: Scapuloperoneal spinal muscular atrophy (SPSMA) due to a TRPV4 mutation case report
Objective: To make the first case report of SPSMA associated with TRPV4 gene mutation in the Peruvian population presented in a young Peruvian woman. Background:…Novel findings in a Swedish RFC1-related disorder cohort
Objective: This study aims to clinically characterize a Swedish cohort of patients featuring RFC1 CANVAS/spectrum disorders. Background: Biallelic pentanucleotide expansions in the RFC1 gene are…Opsoclonus-Myoclonus Ataxia plus Demyelinating Neuropathy Syndrome in an uncommon type of Prostate Cancer, a Case Report
Objective: To present a unique case of adult-onset opsoclonus-myoclonus ataxia plus demyelinating neuropathy syndrome in a patient with large cell neuroendocrine prostate carcinoma with isolated…Adding Parkinsonism to the Phenotypic Spectrum of FIG4-related diseases
Objective: To describe a phenotypic variant of FIG4-related diseases resulting in parkinsonism. Background: The FIG4 gene codes for P1(3,5)P2 phosphatase that plays an important role…The neurological manifestations of PHARC syndrome: a systematic review
Objective: To provide a systematic review of the neurological manifestations of the PHARC syndrome. Background: Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataracts (PHARC) syndrome…Parkinson’s disease and Charcot-Marie-Tooth type 2: coincidental or causal?
Objective: To report a patient with Charcot-Marie-Tooth (CMT) type 2N (CMT2N) due to AARS gene mutation who developed early-onset Parkinson’s disease (PD). Background: Aminoacyl tRNA…Parkinson’s Disease and Chronic Inflammatory Demyelinating Polyneuropathy: Broadening the Clinical Spectrum of VCP Mutations?
Objective: Valosin-containing protein (VCP) mutation causes a multiorgan disease characterized by inclusion body myopathy, Paget disease and frontotemporal dementia, more rarely by Charcot-Marie-Tooth disease type…Polyneuropathy in Parkinson’s disease: cross-sectional analysis of the Bochum Parkinson Nerve Study cohort
Objective: To describe the prevalence of large-fiber polyneuropathy (PNP) in people with PD and examine differences between subjects with or without PNP. Background: Non-motor symptoms…Gene rearrangement as the cause of hereditary Hypomyelinating Leukodyistrophy disease type 5 (HLD5)
Objective: To define the clinical, neurophysiological, neuroimaging and pathological findings from a patient carrying a FAM126A homozygous exon 3-7 deletion. Background: Hypomyelinating leukodystrophies constitute a…Botulinum Toxin A in the Management of peripheral mononeuropathy: post herpetic neuralgia and trigeminal neuralgia
Objective: The purpose of this study is determinate the efficacy and safety of botulin toxin A in the treatment of refractory post herpetic neuralgia and…
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