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Article

Novel SPG6 mutation p.A100T in a Japanese family with autosomal dominant form of hereditary spastic paraplegia.

Movement disorders : official journal of the Movement Disorder Society - 1 Sept 2006

Kaneko Satoshi, Kawarai Toshitaka, Yip Edwin, Salehi-Rad Shabnam, Sato Christine, Orlacchio Antonio, Bernardi Giorgio, Liang Yan, Hasegawa Hiroshi, Rogaeva Ekaterina, St George-Hyslop Peter

Abstract excerpt

We describe a Japanese family in which inheritance of a novel mutation p.A100T in SPG6 resulted in an autosomal dominant form of hereditary spastic paraplegia (ADHSP). Clinical investigation showed a pure form of HSP. Our study demonstrates further allelic heterogeneity of SPG6.

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Share to Amino Acid Substitution
Share to Genetic Carrier Screening

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Membrane Proteins

Share to Neurologic Examination

Share to Polymorphism, Restriction Fragment Length

Share to Protein Structure, Secondary

Share to Protein Structure, Tertiary

Share to Spastic Paraplegia, Hereditary

Source

Identifiers

PMID: 16795073
DOI: 10.1002/mds.21005

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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