A Complex Phenotype of a Patient with Spastic Paraplegia Type 4 Caused by a Novel Pathogenic Variant in the SPAST Gene

Hereditary spastic paraplegias (HSPs) are rare neurological disorders caused by degeneration of the corticospinal tract. Among the 79 causative genes involved in HSPs, variants in SPAST on chromosome 2p22, which encodes the microtubule-severing protein spastin, are responsible for spastic paraplegia...

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Veröffentlicht in:	Case Reports in Neurology 2021-12, Vol.13 (3), p.763-771
Hauptverfasser:	Akaba, Yuichi, Takeguchi, Ryo, Tanaka, Ryosuke, Takahashi, Satoru
Format:	Artikel
Sprache:	eng
Schlagworte:	Adenosine triphosphatase Age Analysis Anticonvulsants Atrophy Binding sites Care and treatment Case reports Cognition disorders Cognitive ability complex phenotype Complications and side effects Convulsions & seizures Diagnosis Epilepsy Gait Genes Genomes Genotype & phenotype hereditary spastic paraplegia Magnetic resonance imaging Mutation Paralysis Paralysis, Spastic Patients Phenotype Risk factors Single Case – General Neurology Single Case − General Neurology spast spastic paraplegia type 4 Spasticity
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