Article
Clinical features of Chinese patients with Huntington's disease carrying CAG repeats beyond 60 within HTT gene.
Clinical genetics - 1 Feb 2014
Liu Z-J, Sun Y-M, Ni W, Dong Y, Shi S-S, Wu Z-Y
Abstract excerpt
Patients with Huntington's disease (HD) carrying CAG repeats beyond 60 are less frequently seen and clinical features of them have been rarely reported. We identified four unrelated patients carrying CAG repeats beyond 60 (84.0 ± 13.76, ranging from 74 to 104) from 119 Chinese HD patients via direct sequencing. These four were all early onset with a mean age at presenting symptom of 9.8 ± 1.71 years. Paternal...
Topics
- Age of Onset
- Asian People
- Child
- Humans
- Huntingtin Protein
- Huntington Disease
- Magnetic Resonance Imaging
- Nerve Tissue Proteins
- Pedigree
- Phenotype
- Sequence Analysis, DNA