Ataxia-Teleangiectasia-Mutated-Knock-Out mouse cerebellum shows significant reduction of calcium homeostasis factors
Objective: We aimed to identify sensitive and specific molecular markers of the cerebellar Purkinje neuron loss in Ataxia Teleangiectasia. Background: Ataxia teleangiectasia is an autosomal…TANDEM REPEATS BEYOND THE CLINICAL DIAGNOSIS IN ADCAs
Objective: To present observations on abnormal expansion in both allele in ADCAs. Background: Use of expansion in tandem repeats is restricted to only disease diagnosis…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…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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