Dorsolateral Cervical Cord <scp>T2</scp> Hyperintensity in <scp> <i>KIF1C</i> </scp> ‐Related Disease (Spastic Paraplegia 58): Two Long‐Duration Cases

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.

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Publication Details

Journal
Annals of Clinical and Translational Neurology
Published
2025-11-14
DOI
https://doi.org/10.1002/acn3.70248
Primary Topic
Hereditary Neurological Disorders
Type
article
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article

Dorsolateral Cervical Cord T2 Hyperintensity in KIF1C ‐Related Disease (Spastic Paraplegia 58): Two Long‐Duration Cases

Hiroyuki Ishiura, Ryo Kurokawa, Akihiko Mitsutake, Masao Osaki et al.
Annals of Clinical and Translational Neurology
Hereditary Neurological Disorders
article

Dorsolateral Cervical Cord T2 Hyperintensity in KIF1C ‐Related Disease (Spastic Paraplegia 58): Two Long‐Duration Cases

Hiroyuki Ishiura, Ryo Kurokawa, Akihiko Mitsutake, Masao Osaki, Miho Osako, Chisen Takeuchi, Jun Mitsui, Harushi Mori, Takashi Matsukawa, Jun Goto, Yuji Takahashi, Shoji Tsuji, Tatsushi Toda
article en

Abstract

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.

Annals of Clinical and Translational NeurologyVol. 13(2)
Jichi Medical University (JP), Okayama University (JP), National Center of Neurology and Psychiatry (JP), University of Tokyo Hospital (JP), Tokyo-Kita Medical Center (JP), The Jikei University Hospital (JP), Toranomon Hospital (JP), The University of Tokyo (JP), International University of Health and Welfare (JP)
Openalex Percentile: Top 63%
Hereditary Neurological Disorders
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