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.

April 17, 2020
Open Access

Electrophysiological evidence of spino-cortical proprioceptive tracts dysfunction in hereditary spastic paraplegia with thin corpus callosum

Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology
M Lamartine MonteiroG Naeije
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
March 14, 2020
Open Access

AP4B1-associated hereditary spastic paraplegia: expansion of phenotypic spectrum related to homozygous p.Thr387fs variant

Journal of Applied Genetics
Krzysztof SzczałubaRafał Płoski
March 18, 2020
Review
Open Access

Lipids in the Physiopathology of Hereditary Spastic Paraplegias

Frontiers in Neuroscience
Frédéric DariosGiovanni Stevanin
March 31, 2020

Autosomal dominant hereditary spastic paraplegia caused by mutation of UBAP1

Neurogenetics
Jianda WangJianhua Feng
March 11, 2020
Open Access

Efficacy of a Combined Treatment of Botulinum Toxin and Intensive Physiotherapy in Hereditary Spastic Paraplegia

Frontiers in Neuroscience
G PaparellaAndrea Martinuzzi
April 12, 2020

Paediatric-onset hereditary spastic paraplegias: a retrospective cohort study

Developmental Medicine and Child Neurology
Silvia SchiavoniCarlo Fusco
March 24, 2020
Open Access

Clinical characteristics of Taiwanese patients with Hereditary spastic paraplegia type 5

Annals of Clinical and Translational Neurology
Cheng-Ta ChouYi-Chung Lee
June 6, 2020

Topiramate-Responsive Tremor in a Novel Pathogenic Variant of SPG15 Patient

Clinical Neuropharmacology
Atilla ErsenNihal Olgaç Dündar
March 8, 2020
Preprint
Open Access

Distant homologies and domain conservation of the Hereditary Spastic Paraplegia protein SPG11/ALS5/spatacsin

BioRxiv : the Preprint Server for Biology
Alexander L Patto, Cahir J O'Kane
July 10, 2020
Open Access

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

Rinshō shinkeigaku = Clinical neurology
Kyoko MarutaHiroshi Takashima
May 12, 2020

Clinical Characterization of 2 Siblings with a Homozygous SPAST Variant

The American Journal of Case Reports
Héctor Cruz-CaminoConsuelo Cantú-Reyna
April 18, 2020
Review

Selective dorsal rhizotomy for spasticity of genetic etiology

Child's Nervous System : ChNS : Official Journal of the International Society for Pediatric Neurosurgery
Laura-Nanna LohkampGeorge M Ibrahim
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
April 17, 2020

Molecular analysis and clinical diversity of distal hereditary motor neuropathy

European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies
Xiaoxuan LiuDongsheng Fan

Sign up to follow this feed and discover related papers.

Related Feeds

22q11 Deletion Syndrome

22q11.2 deletion syndrome, also known as DiGeorge syndrome, is a congenital disorder caused as a result of a partial deletion of chromosome 22. Here is the latest research.

4H Leukodystrophy

4H Lekodystrophy involves hypomyelination, hypogonadotropic hypogonadism and hypodontia. It is also known as POLR-3Related Leukodystrophy. 4H syndrome symptoms include delayed or abnormal puberty, issues with central nervous system signal transmission, abnormal development of teeth, and symptoms tend to progressively get worse over time. There is not yet a known cure.

ALS

Amyotrophic Lateral Sclerosis (ALS), also known as motor neuron disease, is associated with the death of neurons that control voluntary muscles. Discover the latest research on ALS here.

ALS & FTD: TDP-43

ALS shares with a considerable proportion of FTD cases the same neuropathological substrate, namely, inclusions of abnormally phosphorylated protein tdp-43 (ptdp-43). Here are the latest discoveries pertaining to ptdp-43 and these diseases.

ALS - Pathogenic Mechanisms

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder characterized by muscle weakness. Here is the latest research investigating pathogenic mechanisms that underlie this genetically heterogeneous disorder.

ALS - Phenotypes

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder characterized by muscle weakness. Here is the latest research investigating phenotypes associated with this genetically heterogeneous disorder.

ALS: Genetics

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder characterized by muscle weakness. ALS is a genetically heterogeneous disorder with several causative genes. Here are the latest discoveries pertaining to the genetics of this disease.

ALS: Prions

Prions are misfolded proteins which characterize several fatal neurodegenerative diseases. Prion-like mechanisms are associated with the pathogenesis of Amyotrophic Lateral Sclerosis (ALS). Here are the latest discoveries pertaining to this disease.

ALS: Stress Granules

Amyotrophic Lateral Sclerosis (ALS) is a neurodegenerative disease characterized by cytoplasmic protein aggregates within motor neurons. TDP-43 is an ALS-linked protein that is known to regulate splicing and storage of specific mRNAs into stress granules, which have been implicated in formation of ALS protein aggregates. Here is the latest research.

ALS: Therapies

Amyotrophic Lateral Sclerosis (ALS), also known as motor neuron disease, is associated with the death of neurons that control voluntary muscles. Discover the latest research on ALS therapies here.

© 2020 Meta ULC. All rights reserved
/feed-previews/hereditary-spastic-paraplegia/11fff699-baf7-4ab2-b5f6-272eadbcd557