Cerebellar Transcranial Magnetic Stimulation Improves Ataxia in Minamata Disease
Case Reports in Neurology, 2019 Minamata disease (MD) is a form of intoxication involving the central nervous system and is caused by ingesting seafood from methylmercury-contaminated areas in Japan.
Masaaki Nakamura +4 more
doaj +1 more source
Is Ataxia an Underestimated Symptom of Huntington's Disease?
Frontiers in Neurology, 2020 Background: Huntington's disease (HD) is a progressive disorder characterized by motor, cognitive and psychiatric features. Cerebellar ataxia is classically considered as uncommon in HD clinical spectrum.Objective: To determine the prevalence of ...
Gustavo L. Franklin +22 more
doaj +1 more source
Cerebellar glutamatergic system impacts spontaneous motor recovery by regulating Gria1 expression
npj Regenerative Medicine, 2022 Peripheral nerve injury (PNI) often results in spontaneous motor recovery; however, how disrupted cerebellar circuitry affects PNI-associated motor recovery is unknown.
Pallavi Asthana +11 more
doaj +1 more source
Ataxia-telangiectasia mutated plays an important role in cerebellar integrity and functionality
Neural Regeneration Research, 2023 Accumulating evidence indicates that ataxia-telangiectasia mutated kinase is critical for maintaining cellular homeostasis and that it has both nuclear and cytoplasmic functions. However, the functions of ataxia-telangiectasia mutated that when lost lead
Yulia Mitiagin, Ari Barzilai
doaj +1 more source
Changes in Purkinje cell firing and gene expression precede behavioral pathology in a mouse model of SCA2. [PDF]
, 2012 Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominantly inherited disorder, which is caused by a pathological expansion of a polyglutamine (polyQ) tract in the coding region of the ATXN2 gene.
Hansen, Stephen T +3 more
core +1 more source
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
ATXN2-CAG42 sequesters PABPC1 into insolubility and induces FBXW8 in cerebellum of old ataxic knock-in mice [PDF]
, 2012 Spinocerebellar Ataxia Type 2 (SCA2) is caused by expansion of a polyglutamine encoding triplet repeat in the human ATXN2 gene beyond (CAG)31. This is thought to mediate toxic gain-of-function by protein aggregation and to affect RNA processing ...
Auburger, Georg +8 more
core +3 more sources
Childhood Cerebellar Ataxia [PDF]
Journal of Child Neurology, 2012 Childhood presentations of ataxia, an impairment of balance and coordination caused by damage to or dysfunction of the cerebellum, can often be challenging to diagnose. Presentations tend to be clinically heterogeneous, but key considerations may vary based on the child’s age at onset, the course of illness, and subtle differences in phenotype ...
openaire +2 more sources
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
Benninger, C. +4 more
core +1 more source