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2003 3
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Page 1
Hereditary Spastic Paraplegia: An Update.
Meyyazhagan A, Orlacchio A. Meyyazhagan A, et al. Int J Mol Sci. 2022 Feb 1;23(3):1697. doi: 10.3390/ijms23031697. Int J Mol Sci. 2022. PMID: 35163618 Free PMC article. Review.
Hereditary spastic paraplegia (HSP) is a rare neurodegenerative disorder with the predominant clinical manifestation of spasticity in the lower extremities. HSP is categorised based on inheritance, the phenotypic characters, and the mode of molecular pathophy …
Hereditary spastic paraplegia (HSP) is a rare neurodegenerative disorder with the predominant clinical manifestation of …
The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies.
Ruano L, Melo C, Silva MC, Coutinho P. Ruano L, et al. Neuroepidemiology. 2014;42(3):174-83. doi: 10.1159/000358801. Epub 2014 Mar 5. Neuroepidemiology. 2014. PMID: 24603320 Free article. Review.
BACKGROUND: Hereditary cerebellar ataxias (HCA) and hereditary spastic paraplegias (HSP) are two groups of neurodegenerative disorders that usually present with progressive gait impairment, often leading to permanent disability. ...The prevalence of autosomal …
BACKGROUND: Hereditary cerebellar ataxias (HCA) and hereditary spastic paraplegias (HSP) are two groups of neurodegener …
Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms.
Fink JK. Fink JK. Acta Neuropathol. 2013 Sep;126(3):307-28. doi: 10.1007/s00401-013-1115-8. Epub 2013 Jul 30. Acta Neuropathol. 2013. PMID: 23897027 Free PMC article. Review.
Hereditary spastic paraplegia (HSP) is a syndrome designation describing inherited disorders in which lower extremity weakness and spasticity are the predominant symptoms. ...SPG2/Proteolipid protein and SPG42/Connexin 47); (5) protein folding and ER-stress r …
Hereditary spastic paraplegia (HSP) is a syndrome designation describing inherited disorders in which lower extremity w …
A Diagnostic Approach to Spastic ataxia Syndromes.
Pedroso JL, Vale TC, França Junior MC, Kauffman MA, Teive H, Barsottini OGP, Munhoz RP. Pedroso JL, et al. Cerebellum. 2022 Dec;21(6):1073-1084. doi: 10.1007/s12311-021-01345-5. Epub 2021 Nov 15. Cerebellum. 2022. PMID: 34782953 Review.
Spastic ataxia is characterized by the combination of cerebellar ataxia with spasticity and other pyramidal features. It is the hallmark of some hereditary ataxias, but it can also occur in some spastic paraplegias and acquired conditions. ...
Spastic ataxia is characterized by the combination of cerebellar ataxia with spasticity and other pyramidal features. It is the hallm …
Hereditary Neuropathies.
Eggermann K, Gess B, Häusler M, Weis J, Hahn A, Kurth I. Eggermann K, et al. Dtsch Arztebl Int. 2018 Feb 9;115(6):91-97. doi: 10.3238/arztebl.2018.0091. Dtsch Arztebl Int. 2018. PMID: 29478438 Free PMC article. Review.
METHODS: This review is based on pertinent publications retrieved by a PubMed search employing the search terms "hereditary neuropathy," "Charcot-Marie-Tooth disease," "hereditary sensory neuropathy," and "hereditary motor neuropathy." ...Mutations in neurop …
METHODS: This review is based on pertinent publications retrieved by a PubMed search employing the search terms "hereditary neuropath …
Genotype-phenotype associations in hereditary spastic paraplegia: a systematic review and meta-analysis on 13,570 patients.
Erfanian Omidvar M, Torkamandi S, Rezaei S, Alipoor B, Omrani MD, Darvish H, Ghaedi H. Erfanian Omidvar M, et al. J Neurol. 2021 Jun;268(6):2065-2082. doi: 10.1007/s00415-019-09633-1. Epub 2019 Nov 19. J Neurol. 2021. PMID: 31745725 Review.
AIMS: The hereditary spastic paraplegias (HSPs) are a heterogeneous group of inherited neurodegenerative disorders. ...
AIMS: The hereditary spastic paraplegias (HSPs) are a heterogeneous group of inherited neurodegenerative disorders. ...
Hereditary spastic paraplegia.
Fink JK. Fink JK. Curr Neurol Neurosci Rep. 2006 Jan;6(1):65-76. doi: 10.1007/s11910-996-0011-1. Curr Neurol Neurosci Rep. 2006. PMID: 16469273 Review.
The hereditary spastic paraplegias (HSPs) comprise a large group of inherited neurologic disorders. ...Analysis of 11 recently discovered HSP genes provides insight into HSP pathogenesis. Hereditary spastic paraplegia is a clinical diagnosis for …
The hereditary spastic paraplegias (HSPs) comprise a large group of inherited neurologic disorders. ...Analysis of 11 recently …
Clinical and genetic characterization of NIPA1 mutations in a Taiwanese cohort with hereditary spastic paraplegia.
Fang SY, Chou YT, Hsu KC, Hsu SL, Yu KW, Tsai YS, Liao YC, Tsai PC, Lee YC. Fang SY, et al. Ann Clin Transl Neurol. 2023 Mar;10(3):353-362. doi: 10.1002/acn3.51724. Epub 2023 Jan 6. Ann Clin Transl Neurol. 2023. PMID: 36607129 Free PMC article. Review.
OBJECTIVE: NIPA1 mutations have been implicated in hereditary spastic paraplegia (HSP) as the cause of spastic paraplegia type 6 (SPG6). ...The two mutations, c.316G>A and c.316G>C, are located in the 3' end of NIPA1 exon 3 near the …
OBJECTIVE: NIPA1 mutations have been implicated in hereditary spastic paraplegia (HSP) as the cause of spastic …
AAV-Mediated Gene Therapy for Glycosphingolipid Biosynthesis Deficiencies.
Yang H, Brown RH Jr, Wang D, Strauss KA, Gao G. Yang H, et al. Trends Mol Med. 2021 Jun;27(6):520-523. doi: 10.1016/j.molmed.2021.02.004. Epub 2021 Mar 10. Trends Mol Med. 2021. PMID: 33714697 Free PMC article. Review.
De novo glycosphingolipid (GSL) biosynthesis defects cause severe neurological diseases, including hereditary sensory and autonomic neuropathy type 1A (HSAN1A), GM3 synthase deficiency, and hereditary spastic paraplegia type 26 (HSPG26), each lacking e …
De novo glycosphingolipid (GSL) biosynthesis defects cause severe neurological diseases, including hereditary sensory and autonomic n …
Molecular and cellular mechanisms of spastin in neural development and disease (Review).
Liu Q, Zhang G, Ji Z, Lin H. Liu Q, et al. Int J Mol Med. 2021 Dec;48(6):218. doi: 10.3892/ijmm.2021.5051. Epub 2021 Oct 19. Int J Mol Med. 2021. PMID: 34664680 Free PMC article. Review.
Spastin is a microtubule (MT)-severing enzyme identified from mutations of hereditary spastic paraplegia in 1999 and extensive studies indicate its vital role in various cellular activities. ...
Spastin is a microtubule (MT)-severing enzyme identified from mutations of hereditary spastic paraplegia in 1999 and ex …
62 results