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Article

Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation.

Scientific reports - 24 Nov 2014

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

Abstract excerpt

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...

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Source

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Identifiers

PMID: 25417924
DOI: 10.1038/srep07132
PMCID: PMC5384088

Genes

DDHD2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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