title: Homozygosity for an allele carrying intermediate CAG repeats in the dentatorubral-pallidoluysian atrophy (DRPLA) gene results in spastic paraplegia.
abstract: We report a family with autosomal recessive spastic paraplegia. Patient 1 was a 37-year-old woman and patient 2 was her 35-year-old sister. They showed spastic paraplegia with mild truncal ataxia and dysarthria but no dementia, epilepsy, myoclonus, or other involuntary movements. They were the products of a consanguineous marriage but the parents were neurologically normal. We analyzed the CAG repeats of the dentatorubral-pallidoluysian atrophy (DRPLA) gene in the family members. The patients were homozygous for an allele carrying an intermediate size of CAG repeats (41 or 40 repeats) in the DRPLA gene; the parents were heterozygous for an intermediate allele and a normal allele in this gene. Homozygosity for an intermediate allele in the DRPLA gene appears to have resulted in spastic paraplegia different from any DRPLA phenotype.
authors.affiliation: Department of Internal Medicine, Saga Medical School, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Kurohara
authors.forename: Y
authors.initials: Y
authors.lastname: Kuroda
authors.forename: H
authors.initials: H
authors.lastname: Maruyama
authors.forename: H
authors.initials: H
authors.lastname: Kawakami
authors.forename: M
authors.initials: M
authors.lastname: Yukitake
authors.forename: M
authors.initials: M
authors.lastname: Matsui
authors.forename: S
authors.initials: S
authors.lastname: Nakamura
mesh_terms: D000328:Adult; D000483:Alleles; D001284:Atrophy; D001927:Brain Diseases / Q000235:genetics; D018891:Dentate Gyrus / Q000473:pathology / Q000502:physiology*; D004591:Electrophoresis, Polyacrylamide Gel; D005260:Female; D005808:Genes, Recessive; D005838:Genotype; D005917:Globus Pallidus / Q000473:pathology / Q000502:physiology*; D006720:Homozygote; D006801:Humans; D010264:Paraplegia / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012012:Red Nucleus / Q000473:pathology / Q000502:physiology*; D012091:Repetitive Sequences, Nucleic Acid