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Adult-Onset SCAR4 with a 30-Year Slowly Progressive Course: First Combined Assessment with FDG-PET and Brain

Ryunosuke Nagao1, Kazuya Kawabata1, Tamae Ohye2,3

  • 1Department of Neurology, Fujita Health University School of Medicine, 1-98 Dengakugakubo, Kutsukake-Cho, Toyoake, Aichi, 470-1192, Japan.

Cerebellum (London, England)
|July 1, 2026
PubMed
Summary

Autosomal recessive spinocerebellar ataxia type 4 (SCAR4), a rare disorder caused by VPS13D gene variants, can present in adults with progressive ataxia and neuropathy. This case highlights the long disease course and diagnostic considerations for SCAR4.

Keywords:
Autosomal recessive spinocerebellar ataxiaFDG-PETNovel variantSPECTVPS13D

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Area of Science:

  • Genetics
  • Neurology
  • Rare Diseases

Background:

  • Autosomal recessive spinocerebellar ataxia type 4 (SCAR4) is a rare, heterogeneous disorder.
  • It is caused by biallelic variants in the vacuolar protein-sorting 13D (VPS13D) gene.

Purpose of the Study:

  • To describe a unique adult-onset SCAR4 case with a 30-year clinical course.
  • To compare this case with previously reported SCAR4 cases through a literature review.

Main Methods:

  • Clinical and imaging data from a 58-year-old male patient were analyzed.
  • A comprehensive literature review and pooled analysis of 47 reported VPS13D/SCAR4 cases were performed.
  • Whole-exome sequencing identified compound heterozygous VPS13D variants.

Main Results:

  • The patient exhibited a 30-year progression of gait disturbance, cerebellar and sensory ataxia, pyramidal signs, and peripheral neuropathy.
  • MRI revealed mild cerebellar atrophy, and PET/SPECT showed reduced anterior cerebellar activity.
  • The patient carried a pathogenic frameshift and a likely pathogenic missense VPS13D variant.

Conclusions:

  • SCAR4 should be considered in adult patients presenting with sporadic cerebellar ataxia, pyramidal signs, and peripheral neuropathy.
  • This study expands the understanding of SCAR4's clinical heterogeneity and long-term progression.