Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0004134 (ataxia)
 15,886 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The pogo mouse is a new ataxic autosomal recessive mutant that arose in an inbred strain (KJR/MsKist) derived from a Korean wild mouse. The phenotype includes difficulty in maintaining normal posture and the inability to walk straight. Several previous studies have associated inherited ataxia with the ectopic expression of tyrosine hydroxylase (TH) in Purkinje cells. Therefore, in the present study, the distribution of TH expression was compared with that of zebrin II in Purkinje cells of adult pogo/pogo mutant mice. In normal control littermates, tyrosine hydroxylase immunoreactivity is confined to a delicate axonal plexus ramifying through the molecular layer. In pogo/pogo, in addition to the axonal plexus, TH-immunoreactive Purkinje cells were present in all lobules of the cerebellar vermis and hemispheres, distributed as series parasagittal bands. The general pattern of expression is reproducible between individuals and symmetrical about the midline. Alternating stripes of TH expression are also seen in the hemispheres, and most Purkinje cells in the paraflocculi and flocculi are immunoreactive. In pogo/+ mice, TH-immunoreactive Purkinje cells are rare. The pattern of zebrin II expression was used to map TH immunoreactive Purkinje cells in pogo/pogo mutant mice. Double immunofluorescence labeling combining anti-zebrin II fand anti-TH showed that all TH-immunoreactive Purkinje cells are zebrin II+, but that many zebrin II+ Purkinje cells within a band do not stain with anti-TH. Taken together with the morphological changes observed in the Purkinje cell axons, this suggests that abnormal Purkinje cell function may contribute to the ataxic phenotype in pogo/pogo mice.
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PMID:Ectopic expression of tyrosine hydroxylase in Zebrin II immunoreactive Purkinje cells in the cerebellum of the ataxic mutant mouse, pogo. 1150 64

Mutations in the ATP1A3 gene, which encodes the alpha3-subunit of sodium-potassium ATPase, are related to a spectrum of neurological diseases including Rapid onset Dystonia-Parkinsonism (RDP), Alternating Hemiplegia of Childhood (AHC) and Cerebellar ataxia, Areflexia, Pes cavus, Optic atrophy and Sensorineural hearing loss (CAPOS) syndrome. Moreover, an increasing number of patients with intermediate and non classical phenotypes have been reported. Herein we describe 7 patients with 6 different de novo ATP1A3 mutations, and we focus on paroxysmal and chronic movement disorders with the help of video documentation. Our cases confirm that ATP1A3-related neurological disorders make up a phenotypic continuum rather than overlapping syndromes, in which early onset dystonia, ataxia and paroxysmal episodes with triggering or worsening factors are key diagnostic clues. Moreover, our experience suggests that ATP1A3 gene analysis should be extended both to children with channelopathy-like spells and to patients with early onset, fever-related encephalopathy.
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PMID:ATP1A3 spectrum disorders: A video-documented history of 7 genetically confirmed early onset cases. 2939 71

Mutations in ATP1A3 lead to different phenotypes having in common acute neurological decompensation episodes triggered by a specific circumstance and followed by sequelae. Alongside Alternating Hemiplegia of Childhood (AHC), Rapid-onset Dystonia Parkinsonism (RDP) and Cerebellar ataxia, Areflexia, Pes cavus, Optic atrophy, Sensorineural hearing loss syndrome (CAPOS), a new Relapsing Encephalopathy with Cerebellar Ataxia (RECA) phenotype was published in 2015. We describe herein eight new pediatric cases. Most of them had no specific history when the first neurological decompensation episode occurred, before the age of 5 years, triggered by fever with severe paralytic hypotonia followed by ataxia with or without abnormal movements. Neurological sequelae with ataxia as the predominant symptom were present after the first episode in three cases and after at least one subsequent relapse in five cases. Five of the eight cases had a familial involvement with one of the two parents affected. The phenotype-genotype correlation is unequivocal with the causal substitution always located at position 756. The pathophysiology of the dysfunctions of the mutated ATPase pump, triggered by fever is unknown. Severe recurrent neurological decompensation episodes triggered by fever, without any metabolic cause, should lead to the sequencing of ATP1A3.
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PMID:Relapsing encephalopathy with cerebellar ataxia are caused by variants involving p.Arg756 in ATP1A3. 3117 18