Spinocerebellar ataxia type 7: report of a new Italian family
| Autor: | Patrizia Tarantino, Domenico Italiano, Grazia Annesi, Aldo Quattrone, Elvira Valeria De Marco, Placido Bramanti, Rocco Salvatore Calabrò |
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| Rok vydání: | 2012 |
| Předmět: |
Proband
Adult Male congenital hereditary and neonatal diseases and abnormalities Cerebellum Adult Family Female Humans Italy Male Middle Aged Spinocerebellar Ataxias diagnosis/genetics Trinucleotide Repeats genetics Young Adult Ataxia Disease Young Adult Trinucleotide Repeats Internal Medicine medicine Humans Spinocerebellar Ataxias Family genetics Allele Genetics business.industry General Medicine Middle Aged medicine.disease medicine.anatomical_structure Clumsiness Italy Anticipation (genetics) Spinocerebellar ataxia Female medicine.symptom business diagnosis/genetics |
| Popis: | Spinocerebellar ataxia type 7 (SCA7) is a neurodegenerative disorder characterized by degeneration of the cerebellum, brainstem and retina. We herein describe a family from southern Italy whose proband was a 49-year-old man presenting with ataxia with progressive gait disturbances, clumsiness and visual impairment. A molecular analysis identified 38 cytosine-adenine-guanine (CAG) repeat expansions within the SCA7 gene. Our study confirms the marked anticipation previously observed in SCA7 and extends the small number of patients studied thus far. In this family, the disease is most likely caused by a de novo expansion of a premutated intermediate allele carried by one parent. |
| Databáze: | OpenAIRE |
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