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About 2,018 results

ALLMedicine™ Hereditary Spastic Paraplegia Center

Research & Reviews  1,009 results

Mouse models for hereditary spastic paraplegia uncover a role of PI4K2A in autophagic l...
https://doi.org/10.1080/15548627.2021.1891848
Autophagy Khundadze M, Ribaudo F et. al.

Feb 23rd, 2021 - Hereditary spastic paraplegia (HSP) denotes genetically heterogeneous disorders (SPGs) characterized by leg spasticity due to degeneration of corticospinal axons. SPG11 and SPG15 have a similar clinical course and together are the most prevalent a...

A heterozygous mutation in the CCDC88C gene likely causes early-onset pure hereditary s...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7890981
BMC Neurology; Yahia A, Chen ZS et. al.

Feb 19th, 2021 - CCDC88C is a ubiquitously expressed protein with multiple functions, including roles in cell polarity and the development of dendrites in the nervous system. Bi-allelic mutations in the CCDC88C gene cause autosomal recessive congenital hydrocephal...

Evidence for Non-Mendelian Inheritance in Spastic Paraplegia 7.
https://doi.org/10.1002/mds.28528
Movement Disorders : Official Journal of the Movement Dis... Estiar MA, Yu E et. al.

Feb 18th, 2021 - Although the typical inheritance of spastic paraplegia 7 is recessive, several reports have suggested that SPG7 variants may also cause autosomal dominant hereditary spastic paraplegia (HSP). We aimed to conduct an exome-wide genetic analysis on a...

Randomized Trial of Botulinum Toxin Type A in Hereditary Spastic Paraplegia - The SPAST...
https://doi.org/10.1002/mds.28523
Movement Disorders : Official Journal of the Movement Dis... Diniz de Lima F, Faber I et. al.

Feb 17th, 2021 - Hereditary spastic paraplegia presents spasticity as the main clinical manifestation, reducing gait quality and producing incapacity. Management with botulinum toxin type A (BoNT-A) is not well elucidated. The objective of the current study was to...

Hereditary spastic paraplegia type 11: Clinicogenetic lessons from 339 patients.
https://doi.org/10.1016/j.jocn.2020.11.036
Journal of Clinical Neuroscience : Official Journal of Th... Du J

Feb 14th, 2021 - Hereditary spastic paraplegia type 11 (SPG11) is the most common subtype of autosomal recessive hereditary spastic paraplegia (HSP), to date, there are more than 181 different KIAA1840 gene mutations detected, and yet the genetic landscape of SPG1...

see more →

Clinicaltrials.gov  1,009 results

Mouse models for hereditary spastic paraplegia uncover a role of PI4K2A in autophagic l...
https://doi.org/10.1080/15548627.2021.1891848
Autophagy Khundadze M, Ribaudo F et. al.

Feb 23rd, 2021 - Hereditary spastic paraplegia (HSP) denotes genetically heterogeneous disorders (SPGs) characterized by leg spasticity due to degeneration of corticospinal axons. SPG11 and SPG15 have a similar clinical course and together are the most prevalent a...

A heterozygous mutation in the CCDC88C gene likely causes early-onset pure hereditary s...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7890981
BMC Neurology; Yahia A, Chen ZS et. al.

Feb 19th, 2021 - CCDC88C is a ubiquitously expressed protein with multiple functions, including roles in cell polarity and the development of dendrites in the nervous system. Bi-allelic mutations in the CCDC88C gene cause autosomal recessive congenital hydrocephal...

Evidence for Non-Mendelian Inheritance in Spastic Paraplegia 7.
https://doi.org/10.1002/mds.28528
Movement Disorders : Official Journal of the Movement Dis... Estiar MA, Yu E et. al.

Feb 18th, 2021 - Although the typical inheritance of spastic paraplegia 7 is recessive, several reports have suggested that SPG7 variants may also cause autosomal dominant hereditary spastic paraplegia (HSP). We aimed to conduct an exome-wide genetic analysis on a...

Randomized Trial of Botulinum Toxin Type A in Hereditary Spastic Paraplegia - The SPAST...
https://doi.org/10.1002/mds.28523
Movement Disorders : Official Journal of the Movement Dis... Diniz de Lima F, Faber I et. al.

Feb 17th, 2021 - Hereditary spastic paraplegia presents spasticity as the main clinical manifestation, reducing gait quality and producing incapacity. Management with botulinum toxin type A (BoNT-A) is not well elucidated. The objective of the current study was to...

Hereditary spastic paraplegia type 11: Clinicogenetic lessons from 339 patients.
https://doi.org/10.1016/j.jocn.2020.11.036
Journal of Clinical Neuroscience : Official Journal of Th... Du J

Feb 14th, 2021 - Hereditary spastic paraplegia type 11 (SPG11) is the most common subtype of autosomal recessive hereditary spastic paraplegia (HSP), to date, there are more than 181 different KIAA1840 gene mutations detected, and yet the genetic landscape of SPG1...

see more →