CAPN1 mutations are more common than expected in patients with hereditary spastic paraparesis
Objective: To report 4 families with hereditary spastic paraparesis due to CAPN1 mutations. Background: Some years ago, CAPN1 mutations have been described as a cause…Novel Recessive Mitochondrial Mutations Causing Leigh’s Syndrome and Movement Disorders
Objective: Describe discovery of novel mitochondrial mutations causing ataxia and dystonia syndromes with occurrence in childhood. Background: An African-American man at 5 years old subacutely…Reclassification of variant c.5825C>T and clinical evidence of variant c.3955_3958dup in a Peruvian family with ATM syndrome
Objective: To describe a Peruvian family carrying variants c.3955_3958dup and c.5825C>T in the ATM gene. Background: Pathogenic variants at ATM gene are associated both, to…New pathogenic mutation in the Niemann-Pick C (NPC) Type 1 gene: Confirmation by diagnostic workup of NPC in a 41-year-old woman with idiopathic late onset cerebellar ataxia (ILOCA)
Objective: We present an instructive case of a 41-year-old woman with idiopathic late onset cerebellar ataxia. Background: Identifying the cause of idiopathic late onset cerebellar…Association of TTPA mutation and peripheral nerve involvement in Gait disturbances in Ataxia With Vitamin E Deficiency (AVED)
Objective: To determine if peripheral nerve involvement and the type of TTPA mutation are determinant for gait ataxia in patients with AVED in vitamin E…Effects of deep transcranial magnetic stimulation of the cerebellum on cerebellar ataxias: A randomized, double-blind, cross-over clinical trial
Objective: To investigate whether cerebellar deep repetitive transcranial magnetic stimulation (d-rTMS) can improve ataxic symptoms when compared to sham stimulation. Background: Cerebellar ataxia remains a…Upward Gaze Palsy in SCA3: a valuable semiological sign
Objective: Evaluate the prevalence of upward gaze palsy (UGP) and investigate its useful in assisting the clinical differentiation of SCAs. Background: Spinocerebellar ataxias (SCAs) represent…A randomized, sham-controlled, crossover trial on Cerebello-Spinal Transcranial pulsed current stimulation (tPCS) in Ataxia
Objective: Patients of degenerative cerebellar ataxia present with slurring of speech, imbalance during walking and problem of co-ordination in limbs. Currently no effective treatment is…Plasma biomarker quantification in SCA3 using the Neurology 4-PLEX A kit and the Simoa technology
Objective: We present the results of plasma biomarker quantification in a cohort of spinocerebellar ataxia type-3 (SCA3) carriers using a Simoa assay. Background: Development of…Autosomal recessive spastic ataxia of Charlevoix-Saguenay: A Mexican case report
Objective: To describe the clinical presentation of 2 Mexican brothers diagnosed with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) and compare their presentation with those…
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