Abstract | BACKGROUND: OBJECTIVE: To describe the clinical and molecular findings of 7 patients with a clinical presentation of AOA2 and their relatives. DESIGN: Case report. SETTING: Projet Hospitalier de Recherche Clinique. PATIENTS: Seven patients with AOA2 and their family members. INTERVENTION: Linkage analysis and direct sequencing of all exons of SETX were performed in all patients. Magnetic resonance imaging and electroneuromyography were performed and the patients' AFP serum levels were tested. RESULTS: We identified 7 patients with AOA2 from 4 unrelated families. Three novel SETX mutations were found. The clinical picture of the patients reported is fairly homogeneous and in accordance with the classic AOA2 presentation: onset from 13 to 18 years of progressive cerebellar ataxia and areflexia. Oculomotor apraxia was detected in 1 patient. Predominant axonal neuropathy and a diffuse cerebellar atrophy were found in the 4 patients tested. All patients had elevated AFP serum levels and 5 of 8 nonsymptomatic heterozygous relatives had moderately increased AFP serum levels as well. CONCLUSIONS:
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Authors | Mathieu Anheim, Marie-Celine Fleury, Jerome Franques, Maria-Ceu Moreira, Jean-Pierre Delaunoy, Dominique Stoppa-Lyonnet, Michel Koenig, Christine Tranchant |
Journal | Archives of neurology
(Arch Neurol)
Vol. 65
Issue 7
Pg. 958-62
(Jul 2008)
ISSN: 1538-3687 [Electronic] United States |
PMID | 18625865
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
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Topics |
- Adolescent
- Adult
- Aged
- Amino Acid Sequence
- Apraxias
(complications, diagnosis, genetics)
- Ataxia
(complications, diagnosis, genetics)
- Child
- Female
- Genetic Linkage
(genetics)
- Humans
- Male
- Middle Aged
- Molecular Sequence Data
- Mutation
- Oculomotor Nerve Diseases
(complications, diagnosis, genetics)
- Pedigree
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