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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.
The prevalence range of dominant HCA was 0.0-5.6/10(5), with an average of 2.7/10(5) (1.5-4.0/10(5)). Spinocerebellar ataxia type 3 (SCA3)/Machado-Joseph disease was the most common dominant ataxia, followed by SCA2 and SCA6. The autosomal recessive (A …
The prevalence range of dominant HCA was 0.0-5.6/10(5), with an average of 2.7/10(5) (1.5-4.0/10(5)). Spinocerebellar ataxia …
Spinocerebellar ataxia type 7.
Martin JJ. Martin JJ. Handb Clin Neurol. 2012;103:475-91. doi: 10.1016/B978-0-444-51892-7.00030-9. Handb Clin Neurol. 2012. PMID: 21827908 Review.
Spinocerebellar ataxia type 7 (SCA7) is associated with progressive blindness, dominant transmission, and marked anticipation. ...The infantile phenotype is very severe, with more than 100 repeats. The classic type has 50 to 55 repeats and is character …
Spinocerebellar ataxia type 7 (SCA7) is associated with progressive blindness, dominant transmission, and marked antici …
Spinocerebellar ataxia type 1.
Zoghbi HY. Zoghbi HY. Clin Neurosci. 1995;3(1):5-11. Clin Neurosci. 1995. PMID: 7614095 Review.
Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant progressive neurodegenerative disorder characterized by ataxia, dysarthria, ophthalmoparesis, and variable degrees of amyotrophy and neuropathy. ...Both wild type and expanded alleles …
Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant progressive neurodegenerative disorder characterized by …
Repeat-Associated Non-ATG Translation in Neurological Diseases.
Zu T, Pattamatta A, Ranum LPW. Zu T, et al. Cold Spring Harb Perspect Biol. 2018 Dec 3;10(12):a033019. doi: 10.1101/cshperspect.a033019. Cold Spring Harb Perspect Biol. 2018. PMID: 29891563 Free PMC article. Review.
More than 40 different neurological diseases are caused by microsatellite repeat expansions that locate within translated or untranslated gene regions, including 5' and 3' untranslated regions (UTRs), introns, and protein-coding regions. ...RAN proteins, which were first d …
More than 40 different neurological diseases are caused by microsatellite repeat expansions that locate within translated or untransl …
Spinocerebellar ataxia type 1.
Zoghbi HY, Orr HT. Zoghbi HY, et al. Semin Cell Biol. 1995 Feb;6(1):29-35. doi: 10.1016/1043-4682(95)90012-8. Semin Cell Biol. 1995. PMID: 7620119 Review.
Spinocerebellar ataxia type 1 (SCA1) is a dominantly inherited neurodegenerative disorder characterized by ataxia, dysarthria and progressive bulbar dysfunction. ...Individuals affected with SCA1 have one normal allele and one expanded allele containin …
Spinocerebellar ataxia type 1 (SCA1) is a dominantly inherited neurodegenerative disorder characterized by ataxia …
Degenerative and acquired sporadic adult onset ataxia.
Lieto M, Roca A, Santorelli FM, Fico T, De Michele G, Bellofatto M, Saccà F, De Michele G, Filla A. Lieto M, et al. Neurol Sci. 2019 Jul;40(7):1335-1342. doi: 10.1007/s10072-019-03856-w. Epub 2019 Mar 29. Neurol Sci. 2019. PMID: 30927137 Review.
Sporadic adult onset ataxias include degenerative non-hereditary, hereditary, and acquired ataxias. Multiple system atrophy and idiopathic late cerebellar ataxia are degenerative non-hereditary ataxias. Late-onset Friedreich's ataxia, spinoce …
Sporadic adult onset ataxias include degenerative non-hereditary, hereditary, and acquired ataxias. Multiple system atrophy an …
The electrophysiology of spinocerebellar ataxias.
Liang L, Chen T, Wu Y. Liang L, et al. Neurophysiol Clin. 2016 Feb;46(1):27-34. doi: 10.1016/j.neucli.2015.12.006. Epub 2016 Mar 2. Neurophysiol Clin. 2016. PMID: 26947625 Review.
Spinocerebellar Ataxias (SCAs) are a group of autosomal dominantly inherited neurodegenerative diseases, involving the cerebellum and the brainstem. ...Similar and overlapping clinical features make it difficult to differentiate each type. Electrophysiologica …
Spinocerebellar Ataxias (SCAs) are a group of autosomal dominantly inherited neurodegenerative diseases, involving the cerebel …
Cone rod dystrophies.
Hamel CP. Hamel CP. Orphanet J Rare Dis. 2007 Feb 1;2:7. doi: 10.1186/1750-1172-2-7. Orphanet J Rare Dis. 2007. PMID: 17270046 Free PMC article. Review.
Cone rod dystrophies (CRDs) (prevalence 1/40,000) are inherited retinal dystrophies that belong to the group of pigmentary retinopathies. ...CRDs are most frequently non syndromic, but they may also be part of several syndromes, such as Bardet Biedl syndrome and Spinoce …
Cone rod dystrophies (CRDs) (prevalence 1/40,000) are inherited retinal dystrophies that belong to the group of pigmentary retinopath …
[The pathology of hereditary ovarian tumors].
Pesce F, Devouassoux-Shisheboran M. Pesce F, et al. Ann Pathol. 2020 Apr;40(2):85-94. doi: 10.1016/j.annpat.2020.02.015. Epub 2020 Mar 13. Ann Pathol. 2020. PMID: 32178889 Review. French.
Sex-cord tumors associated with a familial predisposition are Sertoli-Leydig cell tumors in DICER syndrome and sex-cord tumors with annular tubules in Peutz-Jeghers syndrome. Small cell carcinoma of hypercalcemic type may be associated with a rhabdoid tumor predisposition …
Sex-cord tumors associated with a familial predisposition are Sertoli-Leydig cell tumors in DICER syndrome and sex-cord tumors with annular …
16 results