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Article

Long-term clinical observation of patients with heterozygous KIF1A variants.

American journal of medical genetics. Part A - 1 Oct 2024

Kawashima Aritomo, Kodama Kaori, Okubo Yukimune, Endo Wakaba, Inui Takehiko, Ikeda Miki, Katata Yu, Togashi Noriko, Ohba Chihiro, Imagawa Eri, Iwama Kazuhiro, Mizuguchi Takeshi, Kitami Masahiro, Aihara Yu, Takayama Jun, Tamiya Gen, Kikuchi Atsuo, Kure Shigeo, Saitsu Hirotomo, Matsumoto Naomichi, Haginoya Kazuhiro

Abstract excerpt

KIF1A-related disorders (KRDs) encompass recessive and dominant variants with wide clinical variability. Recent genetic investigations have expanded the clinical phenotypes of heterozygous KIF1A variants. However, there have been a few long-term observational studies of patients with heterozygous KIF1A variants. A retrospective chart review of consecutive patients diagnosed with spastic paraplegia at Miyagi...

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Identifiers

PMID: 38760879
DOI: 10.1002/ajmg.a.63656

Genes

KIF1A

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