Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2015-05

AUTHORS

Hiroshi Doi, Masao Ushiyama, Takashi Baba, Katsuko Tani, Masaaki Shiina, Kazuhiro Ogata, Satoko Miyatake, Yoko Fukuda-Yuzawa, Shoji Tsuji, Mitsuko Nakashima, Yoshinori Tsurusaki, Noriko Miyake, Hirotomo Saitsu, Shu-ichi Ikeda, Fumiaki Tanaka, Naomichi Matsumoto, Kunihiro Yoshida

ABSTRACT

Autosomal recessive cerebellar ataxias and autosomal recessive hereditary spastic paraplegias (ARHSPs) are clinically and genetically heterogeneous neurological disorders. Herein we describe Japanese siblings with a midlife-onset, slowly progressive type of cerebellar ataxia and spastic paraplegia, without intellectual disability. Using whole exome sequencing, we identified a homozygous missense mutation in DDHD2, whose mutations were recently identified as the cause of early-onset ARHSP with intellectual disability. Brain MRI of the patient showed a thin corpus callosum. Cerebral proton magnetic resonance spectroscopy revealed an abnormal lipid peak in the basal ganglia, which has been reported as the hallmark of DDHD2-related ARHSP (SPG 54). The mutation caused a marked reduction of phospholipase A1 activity, supporting that this mutation is the cause of SPG54. Our cases indicate that the possibility of SPG54 should also be considered when patients show a combination of adult-onset spastic ataxia and a thin corpus callosum. Magnetic resonance spectroscopy may be helpful in the differential diagnosis of patients with spastic ataxia phenotype. More... »

PAGES

7132

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/srep07132

DOI

http://dx.doi.org/10.1038/srep07132

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1037612467

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/25417924


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