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1989 1
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1999 3
2000 2
2001 3
2002 1
2004 4
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2006 2
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83 results

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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 most common AD-HSP form …
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 …
Hereditary spastic paraplegia: from diagnosis to emerging therapeutic approaches.
Shribman S, Reid E, Crosby AH, Houlden H, Warner TT. Shribman S, et al. Lancet Neurol. 2019 Dec;18(12):1136-1146. doi: 10.1016/S1474-4422(19)30235-2. Epub 2019 Jul 31. Lancet Neurol. 2019. PMID: 31377012 Review.
Hereditary spastic paraplegia (HSP) describes a heterogeneous group of genetic neurodegenerative diseases characterised by progressive spasticity of the lower limbs. ...
Hereditary spastic paraplegia (HSP) describes a heterogeneous group of genetic neurodegenerative diseases characterised …
Childhood-Onset Hereditary Spastic Paraplegia (HSP): A Case Series and Review of Literature.
Panwala TF, Garcia-Santibanez R, Vizcarra JA, Garcia AG, Verma S. Panwala TF, et al. Pediatr Neurol. 2022 May;130:7-13. doi: 10.1016/j.pediatrneurol.2022.02.007. Epub 2022 Mar 3. Pediatr Neurol. 2022. PMID: 35303589 Review.
BACKGROUND: Hereditary spastic paraplegia (HSP) encompasses several rare genetic disorders characterized by progressive lower extremity spasticity and weakness caused by corticospinal tract degeneration. ...Genetically confirmed etiologies included SPAST (3 p …
BACKGROUND: Hereditary spastic paraplegia (HSP) encompasses several rare genetic disorders characterized by progressive …
Hereditary Spastic Paraplegia: Clinical and Genetic Hallmarks.
de Souza PVS, de Rezende Pinto WBV, de Rezende Batistella GN, Bortholin T, Oliveira ASB. de Souza PVS, et al. Cerebellum. 2017 Apr;16(2):525-551. doi: 10.1007/s12311-016-0803-z. Cerebellum. 2017. PMID: 27271711 Review.
Hereditary spastic paraplegia comprises a wide and heterogeneous group of inherited neurodegenerative and neurodevelopmental disorders resulting from primary retrograde dysfunction of the long descending fibers of the corticospinal tract. ...The aim of this r …
Hereditary spastic paraplegia comprises a wide and heterogeneous group of inherited neurodegenerative and neurodevelopm …
Childhood-onset hereditary spastic paraplegia and its treatable mimics.
Ebrahimi-Fakhari D, Saffari A, Pearl PL. Ebrahimi-Fakhari D, et al. Mol Genet Metab. 2022 Dec;137(4):436-444. doi: 10.1016/j.ymgme.2021.06.006. Epub 2021 Jun 24. Mol Genet Metab. 2022. PMID: 34183250 Free PMC article. Review.
Early-onset forms of hereditary spastic paraplegia and inborn errors of metabolism that present with spastic diplegia are among the most common "mimics" of cerebral palsy. ...In this short review, we summarize the clinical and molecular understanding o …
Early-onset forms of hereditary spastic paraplegia and inborn errors of metabolism that present with spastic dip …
Autophagy in Myelinating Glia.
Belgrad J, De Pace R, Fields RD. Belgrad J, et al. J Neurosci. 2020 Jan 8;40(2):256-266. doi: 10.1523/JNEUROSCI.1066-19.2019. Epub 2019 Nov 19. J Neurosci. 2020. PMID: 31744863 Free PMC article. Review.
This includes traumatic brain injury, Alexander's disease, Alzheimer's disease, hypoxia, multiple sclerosis, hereditary spastic paraplegia, and others. Promising areas for future research are highlighted....
This includes traumatic brain injury, Alexander's disease, Alzheimer's disease, hypoxia, multiple sclerosis, hereditary spastic …
Inherited myelopathies.
Maas JW Jr. Maas JW Jr. Semin Neurol. 2012 Apr;32(2):114-22. doi: 10.1055/s-0032-1322581. Epub 2012 Sep 8. Semin Neurol. 2012. PMID: 22961186 Review.
Manifestations can include various combinations of signs and symptoms, including disturbance of gait, spasticity, paraplegia, amyotrophy, sensory loss, and urinary sphincter dysfunction. These diseases can be divided into classes that include (1) distal axonopathies-exempl …
Manifestations can include various combinations of signs and symptoms, including disturbance of gait, spasticity, paraplegia, amyotro …
Pelizaeus-Merzbacher disease.
Koeppen AH, Robitaille Y. Koeppen AH, et al. J Neuropathol Exp Neurol. 2002 Sep;61(9):747-59. doi: 10.1093/jnen/61.9.747. J Neuropathol Exp Neurol. 2002. PMID: 12230321 Review.
The clinical spectrum ranges from severe neonatal cases to relatively benign adult forms and X-linked recessive spastic paraplegia type 2. The lack of PLP is accompanied by deficits in the other myelin proteins of the central nervous system, including myelin …
The clinical spectrum ranges from severe neonatal cases to relatively benign adult forms and X-linked recessive spastic paraplegia …
Parkinsonian-Pyramidal syndromes: A systematic review.
Tranchant C, Koob M, Anheim M. Tranchant C, et al. Parkinsonism Relat Disord. 2017 Jun;39:4-16. doi: 10.1016/j.parkreldis.2017.02.025. Epub 2017 Feb 22. Parkinsonism Relat Disord. 2017. PMID: 28256436 Review.
RESULTS: We propose a pragmatic presentation based on several established classifications and we will distinguish inherited PPS found in complex hereditary spastic paraplegia, young onset parkinsonism, neurodegeneration with brain iron accumulation, primary f …
RESULTS: We propose a pragmatic presentation based on several established classifications and we will distinguish inherited PPS found in com …
83 results