CAG repeat expansion in an italian family with spinocerebellar ataxia type 2 (SCA2): a clinical and genetic study
| Autor: | Alessandro Malandrini, Danilo DeFalco, Michela Cappelli, Alessandra Renieri, Gaetano S. Grieco, Giancarlo Guazzi, Emma Parrotta, Lucia Galli, Marcello Villanova, Silvia Palmeri |
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| Rok vydání: | 1998 |
| Předmět: |
Adult
Male Pathology medicine.medical_specialty Ataxia Biopsy Biology Bioinformatics Ophthalmoparesis Central nervous system disease Degenerative disease Sural Nerve Genotype medicine Humans Dinucleotide Repeats Spinocerebellar Degenerations Nerve biopsy medicine.diagnostic_test Brain Middle Aged medicine.disease Magnetic Resonance Imaging Pedigree Phenotype Neurology Italy Spinocerebellar ataxia Female Neurology (clinical) medicine.symptom Trinucleotide repeat expansion |
| Zdroj: | European neurology. 40(3) |
| ISSN: | 0014-3022 |
| Popis: | We report an Italian family in which molecular genetic analysis showed expansion of CAG repeats indicative of the SCA2 genotype. This family confirms that ataxia, ophthalmoparesis and sensory peripheral neuropathy are the salient features of the SCA2 phenotype. In the present cases, early onset and mental deterioration were important additional findings. Nerve biopsy findings were compatible with a chronic axonopathy. We found a direct correlation between length of triplet expansion and severity of the clinical symptoms. Of particular interest is the late-onset phenotypical expression in a patient with 34 repeats. |
| Databáze: | OpenAIRE |
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