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- W2939905627 abstract "Objective: The Hereditary Spastic Paraplegias (HSP) are a rare, heterogeneous group of inherited neurodegenerative diseases characterized by progressive lower extremity spasticity and weakness. Mutations of the kinesin family member 5A (KIF5A) gene lead to a spectrum of phenotypes ranging from spastic paraplegia type 10 (SPG10) to Charcot-Marie Tooth Disease Type 2. Background: A 31 year old male presented with ten years of progressive walking difficulties, stiffness in his arms and legs, and distal paresthesias. Family history is significant for a similar presenting neurologic syndrome in his father and paternal uncle. Neurologic exam revealed normal cognition, cranial nerve examination, and cerebellar examination. Sensory exam demonstrated a length dependent loss of pin prick and vibration in the hands and feet bilaterally. Motor examination revealed asymmetric weakness in the right iliopsoas, hamstring, and anterior tibialis. Tone was significantly increased in the bilateral lower extremities with sustained clonus at the ankles and bilateral extensor plantar responses. The patient’s gait was spastic with scissoring and bilateral foot inversion. Magnetic Resonance Imaging (MRI) brain with and without contrast and MRI cervical spine without contrast were both normal. Laboratory analyses for myelopathy including HTLV-1, Vitamin B12, and Syphilis were negative. EMG/NCS demonstrated a distal symmetric axonal sensory motor neuropathy in all four extremities. Genetic testing for hereditary spastic paraplegia returned positive for a mutation in the KIF5A gene (c.610C>T), consistent with spastic paraplegia type 10. Design/Methods: N/A Results: N/A Conclusions: SPG10 is caused by a mutation in the KIF5A gene encoding neuron specific kinesin heavy chain 5A. KIF5A is expressed in all neurons, which may lead to its variety of presentations including axonal neuropathy, optic neuropathy, epilepsy, and ataxia. Although axonal neuropathy has been reported in many HSP patients, we have reported the first case of HSP10 with neuropathy attributable to a mutation at c.610C>T. Disclosure: Dr. Cuchanski has nothing to disclose. Dr. Baldwin has nothing to disclose." @default.
- W2939905627 created "2019-04-25" @default.
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- W2939905627 date "2018-04-10" @default.
- W2939905627 modified "2023-09-28" @default.
- W2939905627 title "Novel Mutation in KIF5A Causing Hereditary Spastic Paraplegia with Axonal Sensorimotor Neuropathy (P2.444)" @default.
- W2939905627 hasPublicationYear "2018" @default.
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