KIF1A mutation in a patient with progressive neurodegeneration

Nobuhiko Okamoto, Fuyuki Miya, Tatsuhiko Tsunoda, Keiko Yanagihara, Mitsuhiro Kato, Shinji Saitoh, Mami Yamasaki, Yonehiro Kanemura, Kenjiro Kosaki

Research output: Contribution to journalArticle

28 Citations (Scopus)

Abstract

Kinesins are a large superfamily of molecular motors. They move along microtubule filaments and are powered by the hydrolysis of ATP. This transport system is essential for neuronal function and survival. KIF1A belongs to the kinesin 3 family and involves in the anterograde transport of synaptic vesicle precursors along axons. Several studies confirmed that KIF1A mutations cause spastic paraplegia and sensory neuropathy in an autosomal-recessive fashion. A missense mutation in the KIF1A gene (p.Thr99Met) has been reported in a patient with intellectual disability (ID), axial hypotonia and peripheral spasticity. Mild atrophy of the cerebellar vermis was found on magnetic resonance imaging. The mutation was heterozygous and de novo. We identified the second patient with the p.T99M mutation in the KIF1A gene by whole-exome sequencing. He showed severe ID, spasticity, optic atrophy, neurogenic bladder, growth failure and progressive cerebellar atrophy. The p.T99M mutation may be a common recurrent mutation. We suppose that this specific mutation of KIF1A shows a novel neurodegenerative syndrome.

Original languageEnglish
Pages (from-to)639-641
Number of pages3
JournalJournal of Human Genetics
Volume59
Issue number11
DOIs
Publication statusPublished - 2014 Nov 11

Fingerprint

Mutation
Kinesin
Intellectual Disability
Atrophy
Exome
Optic Atrophy
Transport Vesicles
Neurogenic Urinary Bladder
Muscle Hypotonia
Synaptic Vesicles
Paraplegia
Missense Mutation
Microtubules
Genes
Axons
Hydrolysis
Adenosine Triphosphate
Magnetic Resonance Imaging
Survival
Growth

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Okamoto, N., Miya, F., Tsunoda, T., Yanagihara, K., Kato, M., Saitoh, S., ... Kosaki, K. (2014). KIF1A mutation in a patient with progressive neurodegeneration. Journal of Human Genetics, 59(11), 639-641. https://doi.org/10.1038/jhg.2014.80

KIF1A mutation in a patient with progressive neurodegeneration. / Okamoto, Nobuhiko; Miya, Fuyuki; Tsunoda, Tatsuhiko; Yanagihara, Keiko; Kato, Mitsuhiro; Saitoh, Shinji; Yamasaki, Mami; Kanemura, Yonehiro; Kosaki, Kenjiro.

In: Journal of Human Genetics, Vol. 59, No. 11, 11.11.2014, p. 639-641.

Research output: Contribution to journalArticle

Okamoto, N, Miya, F, Tsunoda, T, Yanagihara, K, Kato, M, Saitoh, S, Yamasaki, M, Kanemura, Y & Kosaki, K 2014, 'KIF1A mutation in a patient with progressive neurodegeneration', Journal of Human Genetics, vol. 59, no. 11, pp. 639-641. https://doi.org/10.1038/jhg.2014.80
Okamoto N, Miya F, Tsunoda T, Yanagihara K, Kato M, Saitoh S et al. KIF1A mutation in a patient with progressive neurodegeneration. Journal of Human Genetics. 2014 Nov 11;59(11):639-641. https://doi.org/10.1038/jhg.2014.80
Okamoto, Nobuhiko ; Miya, Fuyuki ; Tsunoda, Tatsuhiko ; Yanagihara, Keiko ; Kato, Mitsuhiro ; Saitoh, Shinji ; Yamasaki, Mami ; Kanemura, Yonehiro ; Kosaki, Kenjiro. / KIF1A mutation in a patient with progressive neurodegeneration. In: Journal of Human Genetics. 2014 ; Vol. 59, No. 11. pp. 639-641.
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