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Spastic Paraplegia Type 8: A First Report from India

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Dear Sir, Spastic paraplegia type 8 (SPG8) is a rare autosomal‐dominant hereditary spastic paraplegia (AD‐HSP) caused by the mutation in the WASHC5 (KIAA0196) gene on chromosome 8. Patients with SPG8… Click to show full abstract

Dear Sir, Spastic paraplegia type 8 (SPG8) is a rare autosomal‐dominant hereditary spastic paraplegia (AD‐HSP) caused by the mutation in the WASHC5 (KIAA0196) gene on chromosome 8. Patients with SPG8 commonly present with progressive lower limb spasticity and become wheelchair bound by the fifth decade of life. Patients may develop upper limb spasticity, impaired vibration sense in the distal lower limbs, urinary urgency or incontinence, spastic dysarthria, and dysphagia.[1] Rare presentation of paroxysmal, exercise‐induced diurnally fluctuating dystonia and levodopa‐responsiveness has been described in SPG8. Hereby, we report a 45‐year‐old male with progressive lower limb spasticity and overactive bladder who had missense mutation in the WASHC5 gene suggestive of SPG8. SPG8 has not been reported in India.

Keywords: limb spasticity; spastic paraplegia; paraplegia; paraplegia type; report

Journal Title: Annals of Indian Academy of Neurology
Year Published: 2023

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