Severity and Progression Rate of Cerebellar Ataxia in 16q-linked Autosomal Dominant Cerebellar Ataxia (16q-ADCA) in the Endemic Nagano Area of Japan [PDF]
, 2009 16q22.1-linked autosomal dominant cerebellar ataxia (16q-ADCA) is a recently defined subtype of ADCA identified by a disease-specific C/T substitution in the 5' untranslated region of the puratrophin-1 gene. In Nagano, the central mountainous district of
Sato, Shunichi +16 more
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Idiopathic very late-onset cerebellar ataxia: a Brazilian case series
Arquivos de Neuro-Psiquiatria, 2015 The authors present a Brazilian case series of eight patients with idiopathic very-late onset (mean 75.5 years old) cerebellar ataxia, featuring predominantly gait ataxia, associated with cerebellar atrophy.Method: 26 adult patients with a diagnosis of ...
Hélio A. G. Teive +5 more
doaj +1 more source
Genetic and clinical features of cerebellar ataxia with RFC1 biallelic repeat expansions in Japan
Frontiers in Neurology, 2022 The recessive intronic pentanucleotide repeat AAGGG expansion of replication factor complex subunit 1 (RFC1) is associated with cerebellar ataxia, sensory neuropathy, and vestibular areflexia syndrome.
Masahiro Ando +18 more
doaj +1 more source
The underpinnings of cerebellar ataxias
Clinical Neurophysiology Practice, 2022 The human cerebellum contains more than 60% of all neurons of the brain. Anatomically, the cerebellum is divided into 10 lobules (I-X). The cerebellar cortex is arranged into three layers: the molecular layer (external), the Purkinje cell layer and the granular layer (internal). Purkinje neurons and interneurons are inhibitory, except for granule cells.
openaire +3 more sources
Molecular mechanism of Spinocerebellar Ataxia type 6: glutamine repeat disorder, channelopathy and transcriptional dysregulation. The multifaceted aspects of a single mutation. [PDF]
, 2015 Spinocerebellar Ataxia type 6 (SCA6) is an autosomal dominant neurodegenerative disease characterized by late onset, slowly progressive, mostly pure cerebellar ataxia. It is one of three allelic disorders associated to CACNA1A gene, coding for the Alpha1
Veneziano, L +11 more
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How to Detect Isolated PEX10-Related Cerebellar Ataxia? [PDF]
, 2022 Nava E, Hartmann B, Boxheimer L, et al. How to Detect Isolated PEX10-Related Cerebellar Ataxia? Neuropediatrics. 2022.A 4-year-old boy presented with subacute onset of cerebellar ataxia. Neuroimaging revealed cerebellar atrophy. Metabolic screening tests
Nava, Esmeralda +8 more
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Progressive Supranuclear Palsy with Predominant Cerebellar Ataxia [PDF]
Journal of Movement Disorders, 2020 Progressive supranuclear palsy (PSP) is characterized by supranuclear gaze palsy, dystonic rigidity of the neck and upper trunk, frequent falls and mild cognitive impairment.
Shoichiro Ando +2 more
doaj +1 more source
Familial hemiplegic migraine with cerebellar ataxia and paroxysmal psychosis [PDF]
, 1999 Familial hemiplegic migraine is a rare autosomal dominant disorder associated with stereotypic neurologic au ra phenomena including hemiparesis, So far two chromosomal loci have been identified. Families linked to the chromosome 19 locus display missense
Spranger, S. +4 more
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Frontiers in Neurology, 2023 ObjectiveTo determine the effectiveness of transcranial magnetic stimulation in improving cerebellar ataxia.Data sourcesPubMed, EMBASE, the Cochrane Library, Springer, Science Direct, the China National Knowledge Infrastructure (CNKI) and the China ...
Ying Wang +5 more
doaj +1 more source
Spinocerebellar Ataxia Type 2 [PDF]
, 2012 1. Introduction: The autosomal dominant cerebellar ataxias (ADCA) are a clinically, pathologically and genetically heterogeneous group of neurodegenerative disorders caused by degeneration of cerebellum and its afferent and efferent connections.
Georg Auburger +9 more
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