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Sensorimotor neuronopathy in ataxia with oculomotor apraxia type 2
Author(s) -
Gazulla José,
Benavente Isabel,
LópezFraile Isabel Pérez,
Modrego Pedro,
Koenig Michel
Publication year - 2009
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.21328
Subject(s) - ataxia , frameshift mutation , medicine , apraxia , neuroscience , mutation , psychology , genetics , biology , gene , aphasia
Two siblings with ataxia with oculomotor apraxia type 2 (AOA2) exhibited electrophysiological findings suggestive of a sensorimotor neuronopathy, and primary ovarian failure was detected in one of them. Genetic analysis disclosed a novel, homozygous frameshift mutation in the senataxin gene, 2755_2756delGT, responsible for a premature stop codon at position 2760. It is suggested that a neuronopathy might cause the neuromuscular disturbance in AOA2, and that ovarian failure should be looked for in female patients with the disease. Muscle Nerve, 2009