Article
Novel Phenotype of 6p25 Deletion Syndrome Presenting Juvenile Parkinsonism and Brain Calcification.
Movement disorders : official journal of the Movement Disorder Society - 1 Aug 2020
Fan Sung-Pin, Lee Ni-Chung, Lin Chin-Hsien
Abstract excerpt
BACKGROUND: Chromosome 6p25 deletion syndrome is a rare neurocristopathy with variable clinical features. The objective of the current study was to describe a novel phenotype for autosomal-dominant chromosome 6p25 deletion syndrome. The presentation included bilateral basal ganglia and subcortical calcifications and juvenile parkinsonism, resembling primary familial brain calcification. METHODS: Phenotypic...
Topics
- Adult
- Brain
- Chromosome Deletion
- Comparative Genomic Hybridization
- Female
- Humans
- Parkinsonian Disorders
- Phenotype