title: Clinical study of large kindreds with autosomal dominant HLA-linked spinocerebellar ataxia (SCA1) of late onset.
abstract: Six families with SCA1 were studied. The clinical data on 35 patients are reported. Cerebellar and pyramidal system involvement was invariably found in association with brainstem, spinal cord and/or peripheral nervous system disorders. In our patients the clinical features appeared concordant when the patients with the same disease duration were compared. Previous reports of SCA1 families had shown great variability in clinical phenotype both interfamilial and intrafamilial. We suggest that the phenotype might appear more homogeneous if disease duration is taken into account.
authors: Istituto di Clinica delle Malattie Nervose e Mentali, Università La Sapienza, Roma.
authors: M
authors: M
authors: Spadaro
authors: P
authors: P
authors: Giunti
authors: G B
authors: GB
authors: Colazza
authors: F
authors: F
authors: Naso
authors: F
authors: F
authors: Bianco
authors: C
authors: C
authors: Morocutti
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D004401:Dysarthria / Q000235:genetics; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D005819:Genetic Markers; D006680:HLA Antigens / Q000235:genetics*; D006801:Humans; D007223:Infant; D007558:Italy; D008297:Male; D008875:Middle Aged; D009759:Nystagmus, Pathologic / Q000235:genetics; D010375:Pedigree; D010641:Phenotype; D013132:Spinocerebellar Degenerations / Q000235:genetics* / Q000276:immunology
chemical_list: D005819:Genetic Markers; D006680:HLA Antigens