Novel ABCD1 Gene Mutation in Adrenomyeloneuropathy with Hypoplasia and Agenesis of the Corpus Callosum.

CONCLUSION: In addition to the typical symptoms such as spastic myelopathy, cognitive impairment, mixed neuropathy, and alopecia, AMN patients can also display hypoplasia and agenesis of the CC, which was not described in the other AMN patients reported before.
PMID: 29966135 [PubMed - as supplied by publisher]

Source: Neuro-Degenerative Diseases - July 2, 2018 Category: Neurology Authors: Qiu Y, Xin L, Wang Y, Yu Y, Zou K, Zhou Q, Chen Y, Chen S, Zhu M, Hong D Tags: Neurodegener Dis Source Type: research