Abstract
The objective of this article has been to describe the presence of a sensory neuronopathy
in a patient harbouring ataxia with oculomotor apraxia type 2 (AOA2). A 40 year-old woman, born to consanguineous parents, presented with ataxia, decreased vibration
sense, areflexia, indifferent plantar responses, preserved muscle volume and strength,
and oculomotor apraxia; elevated levels of serum alpha-fetoprotein and creatine-kinase
were found. A homozygous missense mutation, causing a substitution of a molecule of
arginine for histidine at the helicase domain of the senataxin protein, was found.
Two electrophysiological studies were performed, in which decreased amplitudes of
the sensory action potentials were followed some years later by an absence of sensory
action potentials in the lower limbs, and increased latencies in the somatosensory
evoked potentials. Motor nerve conduction velocities were normal, and electromyographic
recordings did not show abnormalities. Taken together, these findings are suggestive
of a progressive sensory neuronopathy.
The patterns of neuromuscular disturbance in AOA2 have not been thoroughly defined;
therefore, a sensory neuronopathy should be considered part of the spectrum of neuromuscular
manifestations in this disease. Genetic analysis may be of help to diagnose cases
with unusual neuromuscular characteristics, like the one presented here.
Keywords
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References
- Familial spinocerebellar ataxia with cerebellar atrophy, peripheral neuropathy, and elevated level of serum creatine kinase, γ-globulin, and α-fetoprotein.Ann Neurol. 1998; 44: 265-269
- Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: a clinical and genetic study in 18 patients.Brain. 2004; 127: 759-767
- Ataxia with oculomotor apraxia type 2. A clinical, pathologic, and genetic study.Neurology. 2006; 66: 1207-1210
- Autosomal recessive ataxia with peripheral neuropathy and elevated AFP: novel mutations in SETX.Neurology. 2006; 66: 1580-1581
- Novel mutations in the senataxin DNA/RNA helicase domain in ataxia with oculomotor apraxia type 2.Neurology. 2006; 67: 2083
- Mutations in senataxin responsible for Quebec cluster of ataxia with neuropathy.Ann Neurol. 2005; 57: 408-414
- Autosomal recessive cerebellar ataxia with oculomotor apraxia (ataxia-telangiectasia-like syndrome) is linked to chromosome 9q34.Am J Hum Genet. 2000; 67: 1320-1326
- Spinocerebellar ataxia with ocular motor apraxia and DNA repair.Neuropathology. 2006; 26: 361-367
- Les ataxies cérébelleuses autosomiques récessives avec apraxie oculomotrice.Rev Neurol. 2006; 162: 177-184
- The hereditary ataxias and related disorders.Churchill Livingstone, Edinburgh1984
- Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies.Brain. 2003; 126: 2761-2772
- Peripheral nerve involvement in spinocerebellar ataxias.Arch Neurol. 2004; 61: 257-262
- Autosomal recessive spinocerebellar ataxia and peripheral neuropathy with raised α-fetoprotein.J Neurol. 2004; 251: 805-812
- Homozygosity mapping of spinocerebellar ataxia with cerebellar atrophy and peripheral neuropathy to 9q33–34, and with hearing impairment and optic atrophy to 6p21–23.Eur J Hum Genet. 2000; 8: 986-990
- “Pseudodominant inheritance” of ataxia with ocular apraxia type 2 (AOA2).J Neurol. 2008; 255: 495-501
- Clinical and molecular findings of ataxia with oculomotor apraxia type 2 in four families.Arch Neurol. 2008; 65: 958-962
- Sensorimotor neuronopathy in ataxia with oculomotor apraxia type 2.Muscle Nerve. 2009; 40: 481-485
- Comment distinguer une neuropathie d'une neuronopathie?.Rev Méd Liège. 2004; 59: 208-218
- Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2.Nat Genet. 2004; 36: 225-227
- Senataxin, the yeast Sen1p orthologue: characterization of a unique protein in which recessive mutations cause ataxia and dominant mutations cause motor neuron disease.Neurobiol Dis. 2006; 23: 97-108
- Senataxin, defective in ataxia oculomotor apraxia type 2, is involved in the defence against oxidative DNA damage.J Cell Biol. 2007; 6: 969-979
- DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4).Am J Hum Genet. 2004; 74: 1128-1135
- Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study in a cohort of 90 patients.Brain. 2009; 132: 2688-2698
Article info
Publication history
Published online: September 28, 2010
Accepted:
September 3,
2010
Received:
May 24,
2010
Identification
Copyright
© 2010 Published by Elsevier Inc.
