What question did this study set out to answer?

To explore the relationship between KIF1A variants, spastic paraplegia, and FTLD-TDP-43 pathology in a patient.

May 16, 2026Open Access

FTLD‐TDP‐43 With Motor Neuron Disease Pathology in an Autopsied Patient With Spastic Paraplegia‐30B Harbouring a Homozygous KIF1A Variant

Key Points

To explore the relationship between KIF1A variants, spastic paraplegia, and FTLD-TDP-43 pathology in a patient.
Case analysis of an autopsied patient with Spastic Paraplegia-30B and KIF1A variant.
Examination of clinicopathological features associated with KIF1A-related neurological disorder (KAND).
FTLD-TDP-43 pathology observed in the patient with KAND, indicating late-stage disease progression.
Suggests a clinical spectrum that links hereditary spastic paraplegia to motor neuron disease through a TDP-43 pathway.

Abstract

KIF1A-associated neurological disorder (KAND) is a rare hereditary condition caused by KIF1A variants, affecting axonal transport and presenting with a wide clinical spectrum, including hereditary spastic paraplegia. This case of childhood-onset KAND reveals FTLD-TDP43 with motor neuron disease pathology emerging late in the disease course, suggesting that HSP and FTLD-MND share a pathological continuum through a TDP-43-related pathway and expanding the clinicopathological spectrum of KAND.

FTLD‐TDP‐43 With Motor Neuron Disease Pathology in an Autopsied Patient With Spastic Paraplegia‐30B Harbouring a Homozygous KIF1A Variant

Key Points

Abstract

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