Spinocerebellar Ataxia type 11 in a Hispanic Kindred
Objective: To present the clinical profiles of two siblings with SCA11 who are of Hispanic origin. Background: Spinocerebellar ataxia type 11 (SCA11) is an autosomal…Prof. Wadia’s contributions to neurology and SCA2
Objective: To present a review of the seminal contributions of Professor Wadia to neurology, in particular the first description of SCA2. Background: Spinocerebellar ataxia type…Focused neuromodulation by short pulse width improves gait ataxia in thalamic DBS
Objective: To investigate the efficacy of selective neuromodulation to overcome stimulation-induced gait ataxia in patients with essential tremor (ET) and thalamic deep brain stimulation (DBS).…Ataxic gait in subjects with essential tremor and thalamic neurostimulation is caused by posteromedial current spread in the (sub)thalamic area
Objective: We aimed to disentangle a putative role of bilateral thalamic DBS in developing gait-ataxia in subjects with ET. Background: In ET patients with DBS,…Modelling spinocerebellar ataxia 15 with iPS cell derived neurons
Objective: Here we set out to study the cellular pathology of ITPR1-deletions underlying SCA15 in a human model of iPSC-derived cortical neurons. Background: Spinocerebellar Ataxia…Impaired eye voice coordination in spinocerebellar degeneration while reading aloud
Objective: In order to elucidate the cause of the impaired reading performance. Background: Deficit in reading performance in patients with spinocerebellar degeneration (SCD) has been…Peripheral insulin sensitivity and body composition alterations in early stage Machado Joseph disease
Objective: To describe body composition and peripheral sensitivity to insulin (PSI) in early stage and presymptomatic spinocerebellar ataxia type 3/Machado Joseph disease (SCA3/MJD) individuals and…STUB1/CHIP mutations cause Gordon Holmes syndrome as part of widespread multisystemic neurodegeneration: Evidence from novel mutations
Objective: (1) To provide phenotypic and imaging evidence for a widespread neurodegenerative process caused by mutations in CHIP, thus demonstrating a close clinical correspondence to…The nucleocytoplasmic transport of ataxin-3 as pathogenic mechanism in spinocerebellar ataxia type 3
Objective: Spinocerebellar ataxia type 3 (SCA3) or Machado-Joseph disease (MJD) is a neurodegenerative disorder caused by a CAG expansion in the MJD1 gene leading to…
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