Yeungnam Univ J Med.  2006 Jun;23(1):118-123.

A Family of Dentatorubropallidoluysian Atrophy

• Chung JY
• Park MY
• Lee J
• Yoon JP
• Park HJ

Abstract

Dentatorubropallidoluysian atrophy (DRPLA) is a rare neurodegenerative disorder usually inherited in an autosomal dominant pattern. DRPLA has been shown to be associated with expansion of an unstable cytosine-adenine-guanine (CAG) trinucleotide repeat in a gene on chromosome 12p. We evaluated a family with DRPLA that affected three members; A 35-year-old female presented with seven year history of gait ataxia, dysarthria and mild cognitive impairment. The MRI of the brain revealed diffuse cerebellar atrophy with an incidental lipoma in the midbrain. Her 30-year-old brother presented with progressive cerebellar ataxia that developed at the age of 20. Her grandmother and mother were reported to have developed ataxia during the late period of their life, and died at the age of 60 and 55, respectively. The demonstration of an expanded CAG repeat in the gene for DRPLA was used to confirm the diagnosis.

Keyword

Dentatorubropallidoluysian atrophy; CAG trinucleotide repeat; Neurodegenerative disease

MeSH Terms

Adult
Ataxia
Atrophy*
Brain
Cerebellar Ataxia
Diagnosis
Dysarthria
Female
Gait Ataxia
Genes, vif
Humans
Lipoma
Magnetic Resonance Imaging
Mesencephalon
Mild Cognitive Impairment
Mothers
Neurodegenerative Diseases
Siblings
Trinucleotide Repeats