Ataxia and peripheral neuropathy: A benign variant of peroxisome dysgenesis | Zendy

Maccollin Mia | Zendy; De Vivo Darryl C. | Zendy; Moser Ann B. | Zendy; Beard Margaret | Zendy

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Ataxia and peripheral neuropathy: A benign variant of peroxisome dysgenesis

Author(s) -

Maccollin Mia,

De Vivo Darryl C.,

Moser Ann B.,

Beard Margaret

Publication year - 1990

Publication title -

annals of neurology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 4.764

H-Index - 296

eISSN - 1531-8249

pISSN - 0364-5134

DOI - 10.1002/ana.410280617

Subject(s) - peripheral neuropathy , ataxia , medicine , peripheral , dysgenesis , neuroscience , bioinformatics , endocrinology , biology , anatomy , diabetes mellitus , psychiatry

A 5‐year‐old boy with panperoxisomal dysfunction is described. Clinical features included hypotonia, areflexia, and ataxia. Cognition, vision, hearing, and hepatic function were normal. A panel of peroxisomal markers, including very‐long‐chain fatty acids, phytanic acid, pipecolic acid, and catalase compartmentalization, were abnormal. This is a uniquely benign syndrome of disordered peroxisome biogenesis.

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