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Article

Late-onset spastic paraplegia: Aberrant SPG11 transcripts generated by a novel splice site donor mutation.

Journal of the neurological sciences - 15 Dec 2015

Kawarai Toshitaka, Miyamoto Ryosuke, Mori Atsuko, Oki Ryosuke, Tsukamoto-Miyashiro Ai, Matsui Naoko, Miyazaki Yoshimichi, Orlacchio Antonio, Izumi Yuishin, Nishida Yoshihiko, Kaji Ryuji

Abstract excerpt

We identified a novel homozygous mutation in the splice site donor (SSD) of intron 30 (c.5866+1G>A) in consanguineous Japanese SPG11 siblings showing late-onset spastic paraplegia using the whole-exome sequencing. Phenotypic variability was observed, including age-at-onset, dysarthria and pes cavus. Coding DNA sequencing revealed that the mutation affected the recognition of the constitutive SSD of intron 30,...

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Identifiers

PMID: 26671123
DOI: 10.1016/j.jns.2015.10.045

Genes

SPG11

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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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