Ask about this productRelated genes to: KIF1C Blocking Peptide
- Gene:
- KIF1C NIH gene
- Name:
- kinesin family member 1C
- Previous symbol:
- SAX2
- Synonyms:
- SPAX2, SPG58
- Chromosome:
- 17p13.2
- Locus Type:
- gene with protein product
- Date approved:
- 1998-09-25
- Date modifiied:
- 2015-08-28
Related products to: KIF1C Blocking Peptide
Related articles to: KIF1C Blocking Peptide
- Biallelic variants are associated with a spectrum of neurological phenotypes, including spasticity, cerebellar ataxia, chorea, and dystonia. Most reported patients involve single-nucleotide variants, whereas copy number variants (CNVs) have been described only once in the PubMed-listed literature. The therapeutic potential of deep-brain stimulation (DBS) in -related disease has not yet been evaluated. We report a patient presenting with spasticity, ataxia, dystonia, and head tremor, in whom prior exome sequencing was inconclusive. A multi-omics approach was applied, including optical genome mapping (OGM), genome sequencing, and transcriptome sequencing. The clinical effect of DBS was assessed. OGM revealed a homozygous Exon 17–18 deletion, retrospectively detectable in exome and genome data but initially missed by sequence analysis. Transcriptome sequencing demonstrated significantly reduced expression and absence of normally spliced transcripts around those exons, consistent with a loss-of-function mechanism. DBS led to partial clinical improvement, with notable reduction of dystonia and head tremor. Structural variants may be an underrecognized cause of complex movement disorders involving spasticity, ataxia, and dystonia. Diagnostic methods specifically targeting structural variation, such as OGM or CNV analysis of short-read data, can be essential for diagnosis. Transcriptome data add valuable functional insight. This report also suggests that DBS may offer symptomatic benefit in -associated disease, particularly for dystonic signs. - Source: PubMed
Publication date: 2026/03/24
Thomsen MirjaBorsche MaxYépez Vicente ARasche DirkUllrich Kristian KTadic VeraAbdelwakeel Saad MBusch HaukeFranzenburg SörenTrinh JoanneKlein ChristineLohmann KatjaBrüggemann Norbert - Hereditary cerebellar ataxia (HCA) and hereditary spastic paraplegia (HSP) are rare neurologic disorders that often represent opposite ends of a shared clinical spectrum. Spastic ataxia, defined by the co-occurrence of cerebellar syndrome and overt spasticity, remains comparatively underexplored and is associated with relatively few genetic causes. The aim of this study was to characterize the clinical and genetic features of spastic ataxia in a large HCA cohort and compare them with those of nonspastic HCA. - Source: PubMed
Publication date: 2025/12/04
Damásio JoanaSantos MarianaCosta SaraMoura JoãoSardoeira AnaLemos CarolinaOliveira JorgeBarros JoséSequeiros Jorge - - Source: PubMed
Publication date: 2025/11/21
Tarhan GulluHiz Sahinde FaziletInanir Busra ElifSimsir GulsahTekgul SeymaBasak Ayse NazlıDogan Sebahat Nacar - Pathogenic variants in KIF1C cause Spastic Paraplegia 58 (SPG58), typically presenting with cerebellar ataxia and spastic paraparesis. We report two unrelated patients with spastic paraparesis, cerebellar ataxia, and tremor. Whole-exome sequence analysis identified novel homozygous variants in the motor domain of KIF1C (NM_006612.6): c.921G>A (p.Trp307Ter) and c.607C>T (p.Arg203Trp). In addition to the canonical brain MRI showing leukoencephalopathy with posterior dominance and hyperintensity along the corticospinal tracts, both patients showed symmetric T2 hyperintensity confined to the lateral and dorsal columns of the cervical cord. Given the long disease durations (22 and 51 years), these findings may represent late-emerging or previously overlooked spinal cord involvement and broaden the neuroradiological spectrum of SPG58. - Source: PubMed
Publication date: 2025/11/14
Mitsutake AkihikoOsaki MasaoMatsukawa TakashiOsako MihoTakeuchi ChisenIshiura HiroyukiMitsui JunKurokawa RyoMori HarushiTakahashi YujiGoto JunTsuji ShojiToda Tatsushi - Periodontitis, a chronic inflammatory disease of periodontal tissues, is linked to immune response and epigenetic modifications, with DNA methylation playing a crucial role. This study integrates transcriptomic and DNA methylation profiles from periodontitis patients to explore the immune microenvironment and identify potential biomarkers and therapeutic targets. - Source: PubMed
Publication date: 2025/10/10
Jin LingYuan Zhong-ZhengLiu Yin