Clinical characterization and disease progression in spinocerebellar ataxia type 35: A case series
Objective: To characterize the clinical presentation and disease progression of patients with spinocerebellar ataxia type 35 (SCA35). Background: Mutations in TGM6 have been identified to…PNPLA6-related Disorder With Expanded Phenotype Including Parkinsonism, Dystonia, And Abnormal Dopamine Transporter Imaging
Objective: To present a case of PNPLA6-related disorder with an expanded phenotype. Background: PNPLA6-related are autosomal recessive disorders with heterogeneous clusters of cerebellar ataxia, upper…Downbeat nystagmus and progressive ataxia mimicking a neurodegenerative disease: a specific phenotype of Chiari malformation
Objective: Case Report. Background: Chiari malformation type 1 (CM1) is a congenital neurological disease with posterior fossa hypoplasia and the cerebellar tonsils being forced through…Efficacy of a Vibrational Armband in Maintenance of Forced Arm Swing in Parkinsonism
Objective: To objectively validate empirical studies regarding the efficacy of a vibratory stimulus on arm swing and fall risk on individuals with Parkinson’s disease (PD).…Genetic, biochemical and clinical findingss in Friedreich’s ataxia patients – relationship with the disease severity
Objective: To investigate the correlation of disease severity in terms of clinical, genetic and molecular parameters in FRDA. Background: : Friedreich ataxia (FRDA) is a…Effect on somatosensory pathway and balance control after unilateral MRgFUS Vim thalamotomy in patients with essential tremor
Objective: To identify the effect on somatosensory pathway and balance control after unilateral MRgFUS Vim thalamotomy in patients with essential tremor. Background: Essential tremor (ET)…An unusual phenotype of spinocerebellar ataxia type 12
Objective: To describe a case of spinocerebellar ataxia type 12 (SCA-12) with an unusual phenotype. Background: SCA-12 is a rare autosomal dominant cerebellar ataxia which…GAD65 antibody neurologic syndrome presenting with hemiparkinsonism
Objective: To describe a novel phenotype of glutamic acid decarboxylase-65 (GAD65) antibody-associated neurological disease in which an older patient initially presented with levodopa-unresponsive hemiparkinsonism and…Two cases of Ataxia Telangiectasia Like Disorder: phenotypic spectrum associated with MRE11 gene
Objective: In this study we show a couple of siblings with a progressive cerebellar ataxia associated with mutation in MRE11A. Our goal is to demonstrate…An uncommon clinical phenotype associated with ANO10 mutation
Objective: To describe a case with a homozygous c.132dupA ANO10 mutation. Background: Autosomal recessive cerebellar ataxia type 3 (ARCA3) is associated to ANO10 mutations. It…
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