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1999 2
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Page 1
Spastic ataxias.
Bereznyakova O, Dupré N. Bereznyakova O, et al. Handb Clin Neurol. 2018;155:191-203. doi: 10.1016/B978-0-444-64189-2.00012-3. Handb Clin Neurol. 2018. PMID: 29891058 Review.
The presence of spasticity and pyramidal features is a hallmark of some of hereditary ataxias, such as autosomal-recessive spastic ataxia of Charlevoix-Saguenay, other primary spastic ataxias, Friedreich ataxia, or ataxia with isolated vitamin E defici …
The presence of spasticity and pyramidal features is a hallmark of some of hereditary ataxias, such as autosomal-recessive …
Ophthalmological changes in hereditary spastic paraplegia and other genetic diseases with spastic paraplegia.
de Freitas JL, Rezende Filho FM, Sallum JMF, França MC Jr, Pedroso JL, Barsottini OGP. de Freitas JL, et al. J Neurol Sci. 2020 Feb 15;409:116620. doi: 10.1016/j.jns.2019.116620. Epub 2019 Dec 6. J Neurol Sci. 2020. PMID: 31865189 Review.
Ophthalmological abnormalities may occur in specific subtypes of hereditary spastic paraplegia (HSP) and in genetic diseases that present with spastic paraplegia mimicking HSP. ...There are other genetic diseases such as autosomal recessive …
Ophthalmological abnormalities may occur in specific subtypes of hereditary spastic paraplegia (HSP) and in genetic diseases t …
Janus-faced spatacsin (SPG11): involvement in neurodevelopment and multisystem neurodegeneration.
Pozner T, Regensburger M, Engelhorn T, Winkler J, Winner B. Pozner T, et al. Brain. 2020 Aug 1;143(8):2369-2379. doi: 10.1093/brain/awaa099. Brain. 2020. PMID: 32355960 Free PMC article. Review.
Hereditary spastic paraplegia (HSP) is a heterogeneous group of rare motor neuron disorders characterized by progressive weakness and spasticity of the lower limbs. HSP type 11 (SPG11-HSP) is linked to pathogenic variants in the SPG11 gene and it represents the most …
Hereditary spastic paraplegia (HSP) is a heterogeneous group of rare motor neuron disorders characterized by progressive weakn …
Clinical and genetic heterogeneity in hereditary spastic paraplegias: from SPG1 to SPG72 and still counting.
Klebe S, Stevanin G, Depienne C. Klebe S, et al. Rev Neurol (Paris). 2015 Jun-Jul;171(6-7):505-30. doi: 10.1016/j.neurol.2015.02.017. Epub 2015 May 23. Rev Neurol (Paris). 2015. PMID: 26008818 Review.
All modes of inheritance have been described, and the recent technological revolution in molecular genetics has led to the identification of 76 different spastic gait disease-loci with 59 corresponding spastic paraplegia genes. Autosomal recessive …
All modes of inheritance have been described, and the recent technological revolution in molecular genetics has led to the identification of …
Hereditary spastic paraplegias: an update.
Depienne C, Stevanin G, Brice A, Durr A. Depienne C, et al. Curr Opin Neurol. 2007 Dec;20(6):674-80. doi: 10.1097/WCO.0b013e3282f190ba. Curr Opin Neurol. 2007. PMID: 17992088 Review.
Cerebral MRI and the familial history of each patient with spastic paraplegia are the minimal clinical elements needed to orient genetic testing. ...In autosomal recessive forms, mutations in the recently identified SPG11 gene seem to account for a maj …
Cerebral MRI and the familial history of each patient with spastic paraplegia are the minimal clinical elements needed to orie …
Human genetic disorders of sphingolipid biosynthesis.
Astudillo L, Sabourdy F, Therville N, Bode H, Ségui B, Andrieu-Abadie N, Hornemann T, Levade T. Astudillo L, et al. J Inherit Metab Dis. 2015 Jan;38(1):65-76. doi: 10.1007/s10545-014-9736-1. Epub 2014 Aug 21. J Inherit Metab Dis. 2015. PMID: 25141825 Review.
These enzyme deficiencies affect the synthesis of sphingolipid precursors, ceramides or complex glycosphingolipids. They are transmitted as autosomal recessive or dominant traits, and their resulting phenotypes often replicate the abnormalities seen in murine …
These enzyme deficiencies affect the synthesis of sphingolipid precursors, ceramides or complex glycosphingolipids. They are transmit …
Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance.
Finsterer J, Löscher W, Quasthoff S, Wanschitz J, Auer-Grumbach M, Stevanin G. Finsterer J, et al. J Neurol Sci. 2012 Jul 15;318(1-2):1-18. doi: 10.1016/j.jns.2012.03.025. Epub 2012 May 1. J Neurol Sci. 2012. PMID: 22554690 Review.
Hereditary spastic paraplegia (SPG) is a clinically and genetically heterogeneous group of neurodegenerative disorders that are clinically characterised by progressive spasticity and weakness of the lower-limbs (pure SPG) and, majoritorian, additional more extensive …
Hereditary spastic paraplegia (SPG) is a clinically and genetically heterogeneous group of neurodegenerative disorders that ar …
Clinical mitochondrial genetics.
Chinnery PF, Howell N, Andrews RM, Turnbull DM. Chinnery PF, et al. J Med Genet. 1999 Jun;36(6):425-36. J Med Genet. 1999. PMID: 10874629 Free PMC article. Review.
Well established nuclear genetic diseases, such as Friedreich's ataxia,(12) Wilson disease,(3) and autosomal recessive hereditary spastic paraplegia,(4) have been shown to have a mitochondrial basis, and we are just starting to unravel the complex …
Well established nuclear genetic diseases, such as Friedreich's ataxia,(12) Wilson disease,(3) and autosomal recessive heredit …
Mitochondrial dynamics and inherited peripheral nerve diseases.
Pareyson D, Saveri P, Sagnelli A, Piscosquito G. Pareyson D, et al. Neurosci Lett. 2015 Jun 2;596:66-77. doi: 10.1016/j.neulet.2015.04.001. Epub 2015 Apr 3. Neurosci Lett. 2015. PMID: 25847151 Review.
GDAP1 mutations also alter fission, fusion and transport of mitochondria and are associated either with recessive demyelinating (CMT4A) and axonal CMT (AR-CMT2K) and, less commonly, with dominant, milder, axonal CMT (CMT2K). ...Mutations in several proteins fundamental for …
GDAP1 mutations also alter fission, fusion and transport of mitochondria and are associated either with recessive demyelinating (CMT4 …
Disc degeneration-related clinical phenotypes.
Battié MC, Lazáry A, Fairbank J, Eisenstein S, Heywood C, Brayda-Bruno M, Varga PP, McCall I. Battié MC, et al. Eur Spine J. 2014 Jun;23 Suppl 3:S305-14. doi: 10.1007/s00586-013-2903-5. Epub 2013 Jul 25. Eur Spine J. 2014. PMID: 23884550 Review.
When selecting phenotypes, a basic decision is whether to focus directly on the complex clinical phenotype (e.g. the clinical syndrome of spinal stenosis), which is ultimately of interest, or an intermediate phenotype (e.g. dural sac cross-sectional area). ...Genodisc, the …
When selecting phenotypes, a basic decision is whether to focus directly on the complex clinical phenotype (e.g. the clinical syndrom …
18 results