Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashimachi, Kodaira, Tokyo, 187-8551, Japan.
Department of Orthopedics, National Center of Neurology and Psychiatry, National Center Hospital, Kodaira, Japan.
Cerebellum. 2023 Dec;22(6):1308-1311. doi: 10.1007/s12311-022-01489-y. Epub 2022 Oct 13.
Early-onset ataxias are often difficult to diagnose due to the genetic and phenotypic heterogeneity of patients. Whole exome sequencing (WES) is a powerful method for determining causative mutations of early-onset ataxias. We report a case in which a novel de novo KIF1A mutation was identified in a patient with ataxia, intellectual disability and mild foot deformity.A patient presented with sporadic forms of ataxia with mild foot deformity, intellectual disability, peripheral neuropathy, pyramidal signs, and orthostatic hypotension. WES was used to identify a novel de novo mutation in KIF1A, a known causative gene of neurodegeneration and spasticity with or without cerebellar atrophy or cortical visual impairment syndrome (NESCAVS).We report a novel phenotype of NESCAVS that is associated with a novel de novo missense mutation in KIF1A, which provides valuable information for the diagnosis of NESCAVS even in the era of WES. Early rehabilitation of patients with NESCAVS may prevent symptom worsening and improve the disease course.
早发性共济失调由于患者的遗传和表型异质性，通常难以诊断。全外显子组测序（WES）是确定早发性共济失调致病突变的有力方法。我们报告了一例患者，其存在一种新的 KIF1A 突变，该患者表现为共济失调、智力障碍和轻度足畸形。
一名患者表现为散发性共济失调，伴有轻度足畸形、智力障碍、周围神经病、锥体束征和直立性低血压。WES 用于鉴定 KIF1A 中的一种新的从头突变，KIF1A 是神经退行性疾病和痉挛的已知致病基因，伴有或不伴有小脑萎缩或皮质视觉损害综合征（NESCAVS）。
我们报告了一种新的 NESCAVS 表型，该表型与 KIF1A 中的一种新的从头错义突变相关，这为 NESCAVS 的诊断提供了有价值的信息，即使在 WES 时代也是如此。对 NESCAVS 患者进行早期康复治疗可能预防症状恶化并改善病程。
