Clinical, neuropathologic, and genetic studies of a large spinocerebellar ataxia type 1 (SCA1) kindred: (CAG)n expansion and early premonitory signs and symptoms
| العنوان: | Clinical, neuropathologic, and genetic studies of a large spinocerebellar ataxia type 1 (SCA1) kindred: (CAG)n expansion and early premonitory signs and symptoms |
|---|---|
| المؤلفون: | David Genís, Jordi Rosell, Xavier Estivill, A. Molins, V. Volpini, Antonio Dávalos, Isidro Ferrer, T. Matilla |
| المساهمون: | Universitat de Barcelona |
| المصدر: | Dipòsit Digital de la UB Universidad de Barcelona Recercat. Dipósit de la Recerca de Catalunya instname |
| سنة النشر: | 1995 |
| مصطلحات موضوعية: | Adult, Male, Spinocerebellar Ataxia Type 1, medicine.medical_specialty, Pediatrics, Pathology, Ataxia, Genetic Linkage, Molecular Sequence Data, Neurological disorder, Símptomes, Asymptomatic, Central nervous system disease, Sex Factors, Cerebellum, Genetics, Medicine, Humans, Age of Onset, Aged, Probability, Spinocerebellar Degenerations, Sex Characteristics, Clinical pathology, Base Sequence, business.industry, Age Factors, Cerebel, Middle Aged, medicine.disease, Patologia, Pedigree, Anticipation (genetics), Symptoms, Mutation, Female, Neurology (clinical), medicine.symptom, Age of onset, business, Genètica |
| الوصف: | Article abstract-We report the clinical, neuropathologic, and genetic studies of a large kindred (family M-ADCA1) with autosomal dominant spinocerebellar ataxia type 1 (SCA1), ascertained in 41 members, with clinical data available in twenty-two. The mean age of onset was 36.3 +\- 6.2 years (ages, 26 to 52), the mean duration of the disease was 15.8 +\- 6.5 years (range, 10 to 28 years), and the mean age at death was 54.1 +\- 9.5 years (ages, 39 to 72). Premonitory signs and symptoms appeared earlier than the usual onset symptoms in many of the clinically unaffected patients who inherited the mutated SCA1 gene. Anticipation was present when we compared the seventh and eighth generations. A more severe course of the disease occurred in offspring of affected males. Neuropathologic examination, performed on three patients, showed the usual findings of SCA1; Golgi and immunocytochemistry studies suggested primary damage of the Purkinje cells. We analyzed the CAG-repeat mutation responsible for the SCA1 phenotype in a total of 41 family members. There was expansion in 19 subjects (10 clinically affected, seven with early signs and symptoms, and two asymptomatic individuals), and all showed heterozygosity, with one allele between 41 and 59 repeats (SCA1 mutation) and the other in the range of 6 to 39 repeats (normal range). The clinical analysis of "at risk" patients with the SCA1 mutation showed that minor signs and symptoms begin before full clinical diagnosis, and these premonitory manifestations can herald full development of SCA1 by years.NEUROLOGY 1995;45: 24-30 |
| وصف الملف: | application/pdf |
| تدمد: | 0028-3878 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::afcfaf83c72505a6c7c3de8472c89018Test https://pubmed.ncbi.nlm.nih.gov/7824096Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....afcfaf83c72505a6c7c3de8472c89018 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 00283878 |
|---|