Cargando…

The novel de novo mutation of KIF1A gene as the cause for Spastic paraplegia 30 in a Japanese case

Spastic paraplegia 30 is a recently established autosomal recessive disease characterized by a complex form of spastic paraplegia associated with neuropathy. Homozygous mutations of KIF1A reportedly lead to hereditary spastic paraplegia or hereditary sensory and autonomic neuropathy type 2 (HSAN2),...

Descripción completa

Detalles Bibliográficos
Autores principales: Yoshikawa, Keisuke, Kuwahara, Motoi, Saigoh, Kazumasa, Ishiura, Hiroyuki, Yamagishi, Yuko, Hamano, Yuta, Samukawa, Makoto, Suzuki, Hidekazu, Hirano, Makito, Mitsui, Yoshiyuki, Tsuji, Shoji, Kusunoki, Susumu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6297067/
https://www.ncbi.nlm.nih.gov/pubmed/30582020
http://dx.doi.org/10.1016/j.ensci.2018.11.026
_version_ 1783381124997709824
author Yoshikawa, Keisuke
Kuwahara, Motoi
Saigoh, Kazumasa
Ishiura, Hiroyuki
Yamagishi, Yuko
Hamano, Yuta
Samukawa, Makoto
Suzuki, Hidekazu
Hirano, Makito
Mitsui, Yoshiyuki
Tsuji, Shoji
Kusunoki, Susumu
author_facet Yoshikawa, Keisuke
Kuwahara, Motoi
Saigoh, Kazumasa
Ishiura, Hiroyuki
Yamagishi, Yuko
Hamano, Yuta
Samukawa, Makoto
Suzuki, Hidekazu
Hirano, Makito
Mitsui, Yoshiyuki
Tsuji, Shoji
Kusunoki, Susumu
author_sort Yoshikawa, Keisuke
collection PubMed
description Spastic paraplegia 30 is a recently established autosomal recessive disease characterized by a complex form of spastic paraplegia associated with neuropathy. Homozygous mutations of KIF1A reportedly lead to hereditary spastic paraplegia or hereditary sensory and autonomic neuropathy type 2 (HSAN2), whereas heterozygous mutations can cause nonsyndromic and syndromic intellectual disability (MRD9). Here we report the case of a 37-year-old female who presented with gait disturbance complicated with moyamoya disease. RESULTS: The patient exhibited hypotonia during infancy, after which intellectual disability, epileptic fits, spastic paraplegia, and cerebellar atrophy occurred. Genetic analysis revealed a novel de novo mutation (c.254C > A, p.A85D) in the motor domain of KIF1A.
format Online
Article
Text
id pubmed-6297067
institution National Center for Biotechnology Information
language English
publishDate 2018
publisher Elsevier
record_format MEDLINE/PubMed
spelling pubmed-62970672018-12-21 The novel de novo mutation of KIF1A gene as the cause for Spastic paraplegia 30 in a Japanese case Yoshikawa, Keisuke Kuwahara, Motoi Saigoh, Kazumasa Ishiura, Hiroyuki Yamagishi, Yuko Hamano, Yuta Samukawa, Makoto Suzuki, Hidekazu Hirano, Makito Mitsui, Yoshiyuki Tsuji, Shoji Kusunoki, Susumu eNeurologicalSci Letters to the Editor Spastic paraplegia 30 is a recently established autosomal recessive disease characterized by a complex form of spastic paraplegia associated with neuropathy. Homozygous mutations of KIF1A reportedly lead to hereditary spastic paraplegia or hereditary sensory and autonomic neuropathy type 2 (HSAN2), whereas heterozygous mutations can cause nonsyndromic and syndromic intellectual disability (MRD9). Here we report the case of a 37-year-old female who presented with gait disturbance complicated with moyamoya disease. RESULTS: The patient exhibited hypotonia during infancy, after which intellectual disability, epileptic fits, spastic paraplegia, and cerebellar atrophy occurred. Genetic analysis revealed a novel de novo mutation (c.254C > A, p.A85D) in the motor domain of KIF1A. Elsevier 2018-11-22 /pmc/articles/PMC6297067/ /pubmed/30582020 http://dx.doi.org/10.1016/j.ensci.2018.11.026 Text en © 2018 The Authors http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Letters to the Editor
Yoshikawa, Keisuke
Kuwahara, Motoi
Saigoh, Kazumasa
Ishiura, Hiroyuki
Yamagishi, Yuko
Hamano, Yuta
Samukawa, Makoto
Suzuki, Hidekazu
Hirano, Makito
Mitsui, Yoshiyuki
Tsuji, Shoji
Kusunoki, Susumu
The novel de novo mutation of KIF1A gene as the cause for Spastic paraplegia 30 in a Japanese case
title The novel de novo mutation of KIF1A gene as the cause for Spastic paraplegia 30 in a Japanese case
title_full The novel de novo mutation of KIF1A gene as the cause for Spastic paraplegia 30 in a Japanese case
title_fullStr The novel de novo mutation of KIF1A gene as the cause for Spastic paraplegia 30 in a Japanese case
title_full_unstemmed The novel de novo mutation of KIF1A gene as the cause for Spastic paraplegia 30 in a Japanese case
title_short The novel de novo mutation of KIF1A gene as the cause for Spastic paraplegia 30 in a Japanese case
title_sort novel de novo mutation of kif1a gene as the cause for spastic paraplegia 30 in a japanese case
topic Letters to the Editor
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6297067/
https://www.ncbi.nlm.nih.gov/pubmed/30582020
http://dx.doi.org/10.1016/j.ensci.2018.11.026
work_keys_str_mv AT yoshikawakeisuke thenoveldenovomutationofkif1ageneasthecauseforspasticparaplegia30inajapanesecase
AT kuwaharamotoi thenoveldenovomutationofkif1ageneasthecauseforspasticparaplegia30inajapanesecase
AT saigohkazumasa thenoveldenovomutationofkif1ageneasthecauseforspasticparaplegia30inajapanesecase
AT ishiurahiroyuki thenoveldenovomutationofkif1ageneasthecauseforspasticparaplegia30inajapanesecase
AT yamagishiyuko thenoveldenovomutationofkif1ageneasthecauseforspasticparaplegia30inajapanesecase
AT hamanoyuta thenoveldenovomutationofkif1ageneasthecauseforspasticparaplegia30inajapanesecase
AT samukawamakoto thenoveldenovomutationofkif1ageneasthecauseforspasticparaplegia30inajapanesecase
AT suzukihidekazu thenoveldenovomutationofkif1ageneasthecauseforspasticparaplegia30inajapanesecase
AT hiranomakito thenoveldenovomutationofkif1ageneasthecauseforspasticparaplegia30inajapanesecase
AT mitsuiyoshiyuki thenoveldenovomutationofkif1ageneasthecauseforspasticparaplegia30inajapanesecase
AT tsujishoji thenoveldenovomutationofkif1ageneasthecauseforspasticparaplegia30inajapanesecase
AT kusunokisusumu thenoveldenovomutationofkif1ageneasthecauseforspasticparaplegia30inajapanesecase
AT yoshikawakeisuke noveldenovomutationofkif1ageneasthecauseforspasticparaplegia30inajapanesecase
AT kuwaharamotoi noveldenovomutationofkif1ageneasthecauseforspasticparaplegia30inajapanesecase
AT saigohkazumasa noveldenovomutationofkif1ageneasthecauseforspasticparaplegia30inajapanesecase
AT ishiurahiroyuki noveldenovomutationofkif1ageneasthecauseforspasticparaplegia30inajapanesecase
AT yamagishiyuko noveldenovomutationofkif1ageneasthecauseforspasticparaplegia30inajapanesecase
AT hamanoyuta noveldenovomutationofkif1ageneasthecauseforspasticparaplegia30inajapanesecase
AT samukawamakoto noveldenovomutationofkif1ageneasthecauseforspasticparaplegia30inajapanesecase
AT suzukihidekazu noveldenovomutationofkif1ageneasthecauseforspasticparaplegia30inajapanesecase
AT hiranomakito noveldenovomutationofkif1ageneasthecauseforspasticparaplegia30inajapanesecase
AT mitsuiyoshiyuki noveldenovomutationofkif1ageneasthecauseforspasticparaplegia30inajapanesecase
AT tsujishoji noveldenovomutationofkif1ageneasthecauseforspasticparaplegia30inajapanesecase
AT kusunokisusumu noveldenovomutationofkif1ageneasthecauseforspasticparaplegia30inajapanesecase