Clinical and molecular genetic assessment of a chorea-acanthocytosis pedigree
| Autor: | Emiko Mizuno, Yoshiaki Nakabeppu, Asumi Agemura, Mieko Matsuda, Akira Sano, Mio Ichiba, Masayuki Nakamura, Maiko Kato, Yuko Tomemori, Yutaka Kurano, Akira Kusumoto, Shinji Muroya |
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| Rok vydání: | 2006 |
| Předmět: |
Adult
Male Pathology medicine.medical_specialty Nonsense mutation DNA Mutational Analysis Vesicular Transport Proteins Neuropsychological Tests Acanthocytosis Degenerative disease Atrophy Japan medicine Humans Genetic Predisposition to Disease RNA Messenger Chorea acanthocytosis Aged Aged 80 and over Polymorphism Genetic business.industry Reverse Transcriptase Polymerase Chain Reaction Neurodegeneration Chorea Middle Aged medicine.disease Magnetic Resonance Imaging Pedigree Neurology Frontal lobe Evaluation Studies as Topic Female Neurology (clinical) medicine.symptom business Neuroacanthocytosis Follow-Up Studies |
| Zdroj: | Journal of the neurological sciences. 263(1-2) |
| ISSN: | 0022-510X |
| Popis: | Background Chorea-acanthocytosis (ChAc) is an autosomal recessive hereditary disease characterized by neurodegeneration in the striatum and acanthocytosis that is caused by mutations in the VPS13A gene. There are only few reports that studied clinical status of the obligate carriers of ChAc. Clinical courses with follow-up neuroradiological and neuropsychological evaluations in individuals with ChAc have been rarely reported. Methods We followed an index patient with ChAc and evaluated the clinical features of the pedigree members. Genetic analyses of VPS13A and genes responsible for other neuroacanthocytotic and neurodegenerative diseases were performed. Conclusions The index patient was homozygous for a 3889C > T nonsense mutation in the VPS13A gene and presented with a typical ChAc phenotype. Neuropsychological evaluation with brain imaging in the patient over 3 years revealed atrophy and a decrease in blood flow at the basal ganglia and frontal lobe, and impairment in cognitive function reflecting frontal lobe dysfunction in progressive manners. Four out of five heterozygous mutation carriers in the pedigree showed signs or symptoms potentially attributable to a heterozygous VPS13A mutation. |
| Databáze: | OpenAIRE |
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