Neurophysiological and ophthalmological findings of SPG7-related spastic ataxia: a phenotype study in an Irish cohort

Background Mutations in SPG7 are increasingly identified as a common cause of spastic ataxia. We describe a cohort of Irish patients with recessive SPG7- associated phenotype. Methods Comprehensive phenotyping was performed with documentation of clinical, neurophysiological, optical coherence tomogr...

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Veröffentlicht in:	Journal of neurology 2021-10, Vol.268 (10), p.3897-3907
Hauptverfasser:	Bogdanova-Mihaylova, Petya, Chen, Hongying, Plapp, Helena Maria, Gorman, Ciara, Alexander, Michael D., McHugh, John C., Moran, Sharon, Early, Anne, Cassidy, Lorraine, Lynch, Timothy, Murphy, Sinéad M., Walsh, Richard A.
Format:	Artikel
Sprache:	eng
Schlagworte:	Acuity Adolescent Adult Ataxia ATPases Associated with Diverse Cellular Activities - genetics Atrophy Cerebellum Child Child, Preschool Color blindness Color vision Genotype & phenotype Humans Intellectual Disability Medicine Medicine & Public Health Metalloendopeptidases - genetics Middle Aged Muscle Spasticity - diagnostic imaging Muscle Spasticity - genetics Mutation Neuroimaging Neurology Neurophysiology Neuroradiology Neurosciences Optic Atrophy Original Communication Patients Peripheral neuropathy Phenotype Phenotypes Phenotyping Spastic Paraplegia, Hereditary - diagnostic imaging Spastic Paraplegia, Hereditary - genetics Spasticity Spinocerebellar Ataxias Tomography, Optical Coherence Young Adult
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