Hereditary Spastic Paraplegia

Hereditary spastic paraplegia is a neurodegenerative disorder characterized by spastic paraplegia, cognitive impairment, peripheral neuropathy, and progressive spasticity of lower limbs. Here is a latest research.

September 26, 2020
Open Access

Mitochondrial Function in Hereditary Spastic Paraplegia: Deficits in SPG7 but Not SPAST Patient-Derived Stem Cells

Frontiers in Neuroscience
Gautam WaliCarolyn M Sue
August 2, 2020

Heterozygous KIF1A variants underlie a wide spectrum of neurodevelopmental and neurodegenerative disorders

Journal of Medical Genetics
Francesco NicitaGinevra Zanni
July 1, 2020

Hereditary spastic paraplegia type 11 (SPG11) is associated with obesity and hypothalamic damage

Journal of the Neurological Sciences
Ana Luisa de Carvalho Cardozo-HernándezMarcondes Cavalcante França
July 14, 2020
Open Access

Molecular Diagnosis of Hereditary Neuropathies by Whole Exome Sequencing and Expanding the Phenotype Spectrum

Archives of Iranian Medicine
Sara TaghizadehKimia Kahrizi
September 11, 2020
Case Report
Open Access

A Novel SPAST/SPG4 Splice-Site Variant in a Family with Dominant Hereditary Spastic Paraplegia

Case Reports in Neurological Medicine
Nathaniel M RobbinsTanya M Bardakjian
July 29, 2020

Corpus callosum thinning in autosomal dominant hereditary spastic paraplegia associated with a novel TUBβ4A mutation

Clinical Genetics
Marta Lamartine S MonteiroGauthier Remiche
August 28, 2020
Case Report
Open Access

Complicated SPG4 presenting with recurrent urinary tract infection

Journal of Community Hospital Internal Medicine Perspectives
Kinsi OberoiLeema Reddy Peddareddygari
July 10, 2020
Review
Open Access

A case of spastic paraplegia 48 with a novel mutation in the AP5Z1 gene

Rinshō shinkeigaku = Clinical neurology
Kyoko MarutaHiroshi Takashima
July 4, 2020

Clinical characteristics and variant analysis of five pedigrees with hereditary spastic paraplegia

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Yanchuan XieXiangdong Kong
July 11, 2020
Case Report

Co-incident primary progressive multiple sclerosis and hereditary spastic paraplegia (SPG4) - a case report

Multiple Sclerosis and Related Disorders
John J Boucher, Timothy J Counihan
June 21, 2020

Intrathecal baclofen for hereditary spastic paraplegia (HSP)

Child's Nervous System : ChNS : Official Journal of the International Society for Pediatric Neurosurgery
Ian C CoulterGeorge M Ibrahim
June 23, 2020
Case Report

A new paraplegin mutation in a patient with primary progressive multiple sclerosis

Multiple Sclerosis and Related Disorders
Angelo BellinviaSabrina Matà

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