Cerebellar Ataxia and CSF Folate Deficiency
نویسندگان
چکیده
منابع مشابه
Cerebellar Ataxia and CoQ10 Deficiency.
In 2001, we described six patients with cerebellar ataxia and severe deficiency of coenzyme Q10 (CoQ10, ubiquinone) in skeletal muscle [1]. Within one year, we described 13 additional patients [2]; therefore, we suspected this was not a very rare syndrome. Twelve years after our original report, cerebellar ataxia and atrophy has emerged as the most common clinical presentation of CoQ10 deficien...
متن کاملCoenzyme Q10 Deficiency and Cerebellar Ataxia
Coenzyme Q10 (CoQ10) deficiency is an autosomal recessive disorder presenting five main phenotypes: an enchephalomyopathic form, a severe infantile neurological syndrome, a nephrotic form, a pure myopathic form and an ataxic form. The last one, the focus of this review, is the most common phenotype, characterized by childhood/ young adulthood-onset cerebellar ataxia and cerebellar atrophy as ma...
متن کاملCerebellar ataxia and coenzyme Q10 deficiency.
The authors measured coenzyme Q10 (CoQ10) concentration in muscle biopsies from 135 patients with genetically undefined cerebellar ataxia. Thirteen patients with childhood-onset ataxia and cerebellar atrophy had markedly decreased levels of CoQ10. Associated symptoms included seizures, developmental delay, mental retardation, and pyramidal signs. These findings confirm the existence of an ataxi...
متن کاملPhosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment
BACKGROUND Phosphomannomutase deficiency (PMM2-CDG) is the most frequent congenital disorder of glycosylation. The cerebellum is nearly always affected in PMM2-CDG patients, a cerebellar atrophy progression is observed, and cerebellar dysfunction is their main daily functional limitation. Different therapeutic agents are under development, and clinical evaluation of drug candidates will require...
متن کاملCerebellar degeneration and folate deficiency due to cough mixture abuse.
A 34-year-old Chinese man was admitted with unsteady gait and clumpsiness. Examination showed sensory peripheral neuropathy but accompanied by gross past pointing, dysdiadochokinesia and cerebellar gait. A computerized tomogram scan showed bilateral cerebellar degeneration (Figure 1A arrows) and thinning of folia (Figure 1B). There was mild macrocytic anemia (hemo-globin 10.6 g/dL, mean corpusc...
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ژورنال
عنوان ژورنال: Pediatric Neurology Briefs
سال: 1994
ISSN: 2166-6482,1043-3155
DOI: 10.15844/pedneurbriefs-8-4-3