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About 2,054 results

ALLMedicine™ Hereditary Spastic Paraplegia Center

Research & Reviews  1,027 results

Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
https://doi.org/10.1093/brain/awab041
Brain : a Journal of Neurology; Wiessner M, Maroofian R et. al.

May 10th, 2021 - Human 4-hydroxyphenylpyruvate dioxygenase-like (HPDL) is a putative iron-containing non-heme oxygenase of unknown specificity and biological significance. We report 25 families containing 34 individuals with neurological disease associated with bi...

Retinal Architecture in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSA...
https://doi.org/10.1002/mds.28612
Movement Disorders : Official Journal of the Movement Dis... Rezende Filho FM, Bremner F et. al.

Apr 24th, 2021 - Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) causes unique retinal abnormalities, which have not been systematically investigated. To deeply phenotype the retina in ARSACS in order to better understand its pathogenesis and id...

Successful treatment of infantile oxysterol 7α-hydroxylase deficiency with oral chenode...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8045390
BMC Gastroenterology; Tang YP, Gong JY et. al.

Apr 14th, 2021 - Deficiency of oxysterol 7α-hydroxylase, encoded by CYP7B1, is associated with fatal infantile progressive intrahepatic cholestasis and hereditary spastic paraplegia type 5. Most reported patients with CYP7B1 mutations presenting with liver disease...

Genotype-phenotype correlations of KIF5A stalk domain variants.
https://doi.org/10.1080/21678421.2021.1907412
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration; de Boer EMJ, van Rheenen W et. al.

Apr 8th, 2021 - The kinesin family member 5A (KIF5A) motor domain variants are typically associated with hereditary spastic paraplegia (HSP) or Charcot-Marie-Tooth 2 (CMT2), while KIF5A tail variants predispose to amyotrophic lateral sclerosis (ALS) and neonatal ...

Association of an insertion mutation in PRRT2 with hereditary spastic paraplegia accomp...
https://doi.org/10.1002/jcla.23772
Journal of Clinical Laboratory Analysis; Wang Z, Dong H et. al.

Apr 7th, 2021 - Hereditary spastic paraplegia is a rare familial hereditary neurodegenerative disease caused by multiple autosomal dominant mutations. More than 50 mutant genes have been reported to be associated with this disease. In this study, we have reported...

see more →

Clinicaltrials.gov  1,027 results

Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
https://doi.org/10.1093/brain/awab041
Brain : a Journal of Neurology; Wiessner M, Maroofian R et. al.

May 10th, 2021 - Human 4-hydroxyphenylpyruvate dioxygenase-like (HPDL) is a putative iron-containing non-heme oxygenase of unknown specificity and biological significance. We report 25 families containing 34 individuals with neurological disease associated with bi...

Retinal Architecture in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSA...
https://doi.org/10.1002/mds.28612
Movement Disorders : Official Journal of the Movement Dis... Rezende Filho FM, Bremner F et. al.

Apr 24th, 2021 - Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) causes unique retinal abnormalities, which have not been systematically investigated. To deeply phenotype the retina in ARSACS in order to better understand its pathogenesis and id...

Successful treatment of infantile oxysterol 7α-hydroxylase deficiency with oral chenode...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8045390
BMC Gastroenterology; Tang YP, Gong JY et. al.

Apr 14th, 2021 - Deficiency of oxysterol 7α-hydroxylase, encoded by CYP7B1, is associated with fatal infantile progressive intrahepatic cholestasis and hereditary spastic paraplegia type 5. Most reported patients with CYP7B1 mutations presenting with liver disease...

Genotype-phenotype correlations of KIF5A stalk domain variants.
https://doi.org/10.1080/21678421.2021.1907412
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration; de Boer EMJ, van Rheenen W et. al.

Apr 8th, 2021 - The kinesin family member 5A (KIF5A) motor domain variants are typically associated with hereditary spastic paraplegia (HSP) or Charcot-Marie-Tooth 2 (CMT2), while KIF5A tail variants predispose to amyotrophic lateral sclerosis (ALS) and neonatal ...

Association of an insertion mutation in PRRT2 with hereditary spastic paraplegia accomp...
https://doi.org/10.1002/jcla.23772
Journal of Clinical Laboratory Analysis; Wang Z, Dong H et. al.

Apr 7th, 2021 - Hereditary spastic paraplegia is a rare familial hereditary neurodegenerative disease caused by multiple autosomal dominant mutations. More than 50 mutant genes have been reported to be associated with this disease. In this study, we have reported...

see more →