PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia.

doi:10.1093/brain/awv057

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Article

PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia.

Brain : a journal of neurology - 1 Jun 2015

Jobling Rebekah K, Assoum Mirna, Gakh Oleksandr, Blaser Susan, Raiman Julian A, Mignot Cyril, Roze Emmanuel, Dürr Alexandra, Brice Alexis, Lévy Nicolas, Prasad Chitra, Paton Tara, Paterson Andrew D, Roslin Nicole M, Marshall Christian R, Desvignes Jean-Pierre, Roëckel-Trevisiol Nathalie, Scherer Stephen W, Rouleau Guy A, Mégarbané André, Isaya Grazia, Delague Valérie, Yoon Grace

Abstract excerpt

Non-progressive cerebellar ataxias are a rare group of disorders that comprise approximately 10% of static infantile encephalopathies. We report the identification of mutations in PMPCA in 17 patients from four families affected with cerebellar ataxia, including the large Lebanese family previously described with autosomal recessive cerebellar ataxia and short stature of Norman type and localized to chromosome...

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Identifiers

PMID: 25808372
DOI: 10.1093/brain/awv057
PMCID: PMC4542620

Genes

PMPCA

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