Co-occurrence of leukoencephalopathy with ataxia and SPG56 in one family
Objective: We describe an Iraqi family with two recessive movement disorders, leukoencephalopathy with ataxia caused by CLCN2 mutations (LKPAT) and autosomal recessive spastic paraplegia 56 (SPG56) caused by mutations in CYP2U1. Methods: Members of an Iraqi family underwent structured interviews and neurological examination. Neuroimaging and whole exome sequencing were performed, and medical recor
