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Page 1
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 …
Update on the Genetics of Spastic Paraplegias.
Boutry M, Morais S, Stevanin G. Boutry M, et al. Curr Neurol Neurosci Rep. 2019 Feb 28;19(4):18. doi: 10.1007/s11910-019-0930-2. Curr Neurol Neurosci Rep. 2019. PMID: 30820684 Free article. Review.
PURPOSE OF REVIEW: Hereditary spastic paraplegias are a genetically heterogeneous group of neurological disorders. ...This is particularly true for hereditary spastic paraplegias, for which > 60 genes have been identified, highlighting (i) the consi …
PURPOSE OF REVIEW: Hereditary spastic paraplegias are a genetically heterogeneous group of neurological disorders. ...This is …
Inherited metabolic diseases mimicking hereditary spastic paraplegia (HSP): a chance for treatment.
Teive HAG, Camargo CHF, Pereira ER, Coutinho L, Munhoz RP. Teive HAG, et al. Neurogenetics. 2022 Jul;23(3):167-177. doi: 10.1007/s10048-022-00688-3. Epub 2022 Apr 9. Neurogenetics. 2022. PMID: 35397036 Review.
The syndromic group of hereditary spastic paraplegias has a heterogeneous clinical profile and a broad differential diagnosis, including neurometabolic disorders that are potentially treatable. ...Subsequently, we added review articles and works with historical rele …
The syndromic group of hereditary spastic paraplegias has a heterogeneous clinical profile and a broad differential diagnosis, …
Current Knowledge of Endolysosomal and Autophagy Defects in Hereditary Spastic Paraplegia.
Toupenet Marchesi L, Leblanc M, Stevanin G. Toupenet Marchesi L, et al. Cells. 2021 Jul 2;10(7):1678. doi: 10.3390/cells10071678. Cells. 2021. PMID: 34359848 Free PMC article. Review.
Hereditary spastic paraplegia (HSP) refers to a group of neurological disorders involving the degeneration of motor neurons. ...
Hereditary spastic paraplegia (HSP) refers to a group of neurological disorders involving the degeneration of motor neu
ER Morphology in the Pathogenesis of Hereditary Spastic Paraplegia.
Sonda S, Pendin D, Daga A. Sonda S, et al. Cells. 2021 Oct 25;10(11):2870. doi: 10.3390/cells10112870. Cells. 2021. PMID: 34831093 Free PMC article. Review.
Mutation of ER-shaping proteins has been implicated in the neurodegenerative disease hereditary spastic paraplegia (HSP). In this review we discuss the involvement of these proteins in the pathogenesis of HSP, focusing on the experimental evidence linking the …
Mutation of ER-shaping proteins has been implicated in the neurodegenerative disease hereditary spastic paraplegia (HSP …
Detection of novel mutations and review of published data suggests that hereditary spastic paraplegia caused by spastin (SPAST) mutations is found more often in males.
Proukakis C, Moore D, Labrum R, Wood NW, Houlden H. Proukakis C, et al. J Neurol Sci. 2011 Jul 15;306(1-2):62-5. doi: 10.1016/j.jns.2011.03.043. Epub 2011 May 5. J Neurol Sci. 2011. PMID: 21546041 Review.
BACKGROUND: Hereditary spastic paraplegia (HSP) is characterised in its pure form by slowly progressive spastic paraparesis. ...The total number of patients with SPAST mutations was 27, as three of the previously known mutations were present in more th …
BACKGROUND: Hereditary spastic paraplegia (HSP) is characterised in its pure form by slowly progressive spastic
Ophthalmic manifestations of inherited neurodegenerative disorders.
Kersten HM, Roxburgh RH, Danesh-Meyer HV. Kersten HM, et al. Nat Rev Neurol. 2014 Jun;10(6):349-62. doi: 10.1038/nrneurol.2014.79. Epub 2014 May 20. Nat Rev Neurol. 2014. PMID: 24840976 Review.
In this Review, we describe the various afferent visual system and other ophthalmic features of inherited neurodegenerative disorders, including the muscular dystrophies, Friedreich ataxia, the spinocerebellar ataxias, hereditary spastic paraplegia, Charcot-M …
In this Review, we describe the various afferent visual system and other ophthalmic features of inherited neurodegenerative disorders, inclu …
Parkinsonism in complex neurogenetic disorders: lessons from hereditary dementias, adult-onset ataxias and spastic paraplegias.
Aloisio S, Satolli S, Bellini G, Lopriore P. Aloisio S, et al. Neurol Sci. 2023 Oct;44(10):3379-3388. doi: 10.1007/s10072-023-07044-9. Epub 2023 Aug 30. Neurol Sci. 2023. PMID: 37648940 Free PMC article. Review.
However, parkinsonism can be a manifestation of complex neurological and neurodegenerative genetically determined disorders, which have a vast and heterogeneous motor and non-motor phenotypic features. Hereditary dementias, adult-onset ataxias and spastic paraplegia …
However, parkinsonism can be a manifestation of complex neurological and neurodegenerative genetically determined disorders, which have a va …
An update on the leukodsytrophies.
Schiffmann R, Boespflüg-Tanguy O. Schiffmann R, et al. Curr Opin Neurol. 2001 Dec;14(6):789-94. doi: 10.1097/00019052-200112000-00018. Curr Opin Neurol. 2001. PMID: 11723390 Review.
This review centers on important recent advances in the understanding of the role of glial fibrillary acidic protein in Alexander disease and of proteolipid protein in hypomyelinating disorders such as Pelizaeus-Merzbacher and spastic paraplegia. We also describe se …
This review centers on important recent advances in the understanding of the role of glial fibrillary acidic protein in Alexander disease an …
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 exon-i …
OBJECTIVE: NIPA1 mutations have been implicated in hereditary spastic paraplegia (HSP) as the cause of spastic
35 results