Cerebellar ataxia
Enhanced neuronal excitability in the absence of neurodegeneration induces cerebellar ataxia
... Severe cerebellar ataxia exhibited by the ...of cerebellar ataxia. Ataxia was first evident on postnatal day 11 and progressively wors- ened until week ...evaluate cerebellar ...
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Cerebellar ataxia and sensory ganglionopathy associated with light-chain myeloma
... To our knowledge this is the first case of cerebellar ataxia with sensory ganglionopathy associated with light chain myeloma. Whilst it could be argued that this could simply be a coincidence, the rarity of ...
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Contribution of Somatic and Dendritic SK Channels in the Firing Rate of Deep Cerebellar Nuclei: Implication in Cerebellar Ataxia
... The location and properties of ion channels therefore play critical roles in the activity of the neuron, which is the foun- dation for more complex computations at network levels (Yuan & Chen, 2006). In summary, ...
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Effects of repeated waist-pull perturbations on gait stability in subjects with cerebellar ataxia
... lar ataxia from the perspective of rehabilitation of gait and ...improve ataxia symptoms ...with cerebellar ataxia in “real life” situations in order to im- prove their general gait functions ...
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A systematic review of the gait characteristics associated with Cerebellar Ataxia
... of Cerebellar Ataxia and be sensitive to disease ...from Cerebellar Ataxia and each ...in Cerebellar Ataxia [48] although changes to step width are unclear, (either decreased or ...
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Mitochondrial pathology in progressive cerebellar ataxia
... ‘pure ataxia’ pheno- type or an ‘ataxia plus’ phenotype (ataxia with associated features, ...of ataxia were performed prior to the muscle ...with cerebellar ataxia using a 3-T ...
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Mitochondrial cerebellar ataxia, renal failure, neuropathy, and encephalopathy (MCARNE)
... diagnosis. However, when mitochondrial genomic analysis of the kidney was performed, 62% of ;7,000 DNA reads (depth of coverage) had MT-ND5 Asp393Asn mutation. The mu- tation provided a unifying diagnosis for ...
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Autosomal dominant cerebellar ataxia type I: A review of the phenotypic and genotypic characteristics
... of cerebellar ataxia must be excluded and screening for these conditions should be part of the evaluation of any individual presenting with cerebellar signs and symp- ...
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‘Medusa head ataxia’: the expanding spectrum of Purkinje cell antibodies in autoimmune cerebellar ataxia. Part 1: Anti-mGluR1, anti-Homer-3, anti-Sj/ITPR1 and anti-CARP VIII
... gait ataxia. Ataxia was irreversible ...and cerebellar hemispheres in patient 2 after 10 ...chronic cerebellar ataxia ( n = 27), patients with opsoclonus – myoclonus syndrome ( n = 20) ...
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Homozygous pathogenic variant in BRAT1 associated with nonprogressive cerebellar ataxia
... (BRCA1-associated ataxia telangiectasia mutated [ATM] activator 1) mutations were initially identified to cause rigidity and multifocal seizure syndrome, lethal neonatal (RMFSL, OMIM ...delays, ataxia, and ...
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Cerebellar ataxia with sensory ganglionopathy; does autoimmunity have a role to play?
... We identified 40 patients (45% males) with combined cerebellar ataxia and sensory ganglionopathy. Mean age at onset of the symptoms was 53.7 ± 14.7 years (range 8–80) and mean age at first presentation was ...
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Identification of a novel mutation in the CACNA1C gene in a Chinese family with autosomal dominant cerebellar ataxia
... been reported, in a mouse model of ataxia and epilepsy, that cerebellar calcium channel proteins such as Cav1.2 were significantly reduced in number, and thus we specu- late that CACNA1C is associated with ...
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IGF-1 in autosomal dominant cerebellar ataxia - open-label trial
... The insulin-like growth factor system plays important metabolic, trophic and modulatory functions in the cen- tral nervous system, increasing cell proliferation, survival and anti-apoptotic responses [4-6]. Central and ...
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Female sexual dysfunction associated with idiopathic cerebellar ataxia: A case report
... The case evolved to a realistic, non-romantic, sexual affective model, consistent with her medical history of cerebellar ataxia. She reports: “I want to live the moment, I do not know what will happen next, ...
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Presumptive Histoplasmosis Presenting as Cerebellar Ataxia With Spontaneous Recovery
... was rarely found (2.6% of cases).’ Likewise, in the same study, 14% of cases developed complement- fixing antibodies specific for the mycelial phase up to one month after skin testing (m[r] ...
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ACUTE CEREBELLAR ATAXIA IN CHILDREN ASSOCIATED WITH INFECTION BY POLIOVIRUS I
... Shanks,4 who reported 39 cases of cere bellar ataxia occurring over a 20-year period at the Royal Hospital for Sick Children in Glasgow, classified his cases into those with acute onset [r] ...
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INTERMITTENT CEREBELLAR ATAXIA ASSOCIATED WITH HYPERPYRUVIC ACIDEMIA, HYPERALANINEMIA, AND HYPERALANINURIA
... The illness was shown to be associated with increased serum levels of pyruvate, lactate,.. and alanine, together with a tremendous increase.[r] ...
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Quantitative assessment of cerebellar ataxia, through automated limb functional tests
... mild ataxia and patients with severity score of “2” with a signifi- cant level of ataxia, as a preliminary exercise to inves- tigate the feasibility of uncovering clinically observed disability related ...
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A Novel Role of Chloride Channels in Cerebellar Ataxia
... motor learning ability indicating an important role of ANO2 in the coordination of movements and motor learning in the cerebellum. Currently, the molecular mechanisms underlying this phenotype are not entirely understood ...
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Acute Cerebellar Ataxia in Pediatric Legionellosis
... ataxia within seven to ten days, without antibiotics in all three children and after a short betametha- sone treatment in two of the children, suggests that legionellosis was mild and th[r] ...
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