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137 results

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Quoted phrase not found in phrase index: "Spinocerebellar ataxia-dysmorphism syndrome"
Page 1
The inherited cerebellar ataxias: an update.
Coarelli G, Wirth T, Tranchant C, Koenig M, Durr A, Anheim M. Coarelli G, et al. J Neurol. 2023 Jan;270(1):208-222. doi: 10.1007/s00415-022-11383-6. Epub 2022 Sep 24. J Neurol. 2023. PMID: 36152050 Free PMC article. Review.
The challenge of NGS analysis is the identification of causative variant, trio analysis being usually the most appropriate option. Public genomic databases as well as pathogenicity prediction software facilitate the interpretation of NGS results. We also report on key clin …
The challenge of NGS analysis is the identification of causative variant, trio analysis being usually the most appropriate option. Public ge …
The neuropathology of the adult cerebellum.
Koeppen AH. Koeppen AH. Handb Clin Neurol. 2018;154:129-149. doi: 10.1016/B978-0-444-63956-1.00008-4. Handb Clin Neurol. 2018. PMID: 29903436 Free PMC article. Review.
The cerebellum is a prominent target of several sporadic and hereditary neurodegenerative diseases, including multiple system atrophy, spinocerebellar ataxia, and Friedreich ataxia. Purkinje cells display selective vulnerability to hypoxia but a surprising resistance to hy …
The cerebellum is a prominent target of several sporadic and hereditary neurodegenerative diseases, including multiple system atrophy, sp …
Spinocerebellar ataxia type 31: A clinical and radiological literature review.
Saucier J, Al-Qadi M, Amor MB, Ishikawa K, Chamard-Witkowski L. Saucier J, et al. J Neurol Sci. 2023 Jan 15;444:120527. doi: 10.1016/j.jns.2022.120527. Epub 2022 Dec 16. J Neurol Sci. 2023. PMID: 36563608 Free article. Review.
Spinocerebellar ataxia type 31 (SCA31) is an autosomal dominant disease, classified amongst pure cerebellar ataxias (ADCA type 3). ...Clinicians should consider SCA31 in patients with a hereditary, pure cerebellar syndrome and in patients with extracerebellar signs. …
Spinocerebellar ataxia type 31 (SCA31) is an autosomal dominant disease, classified amongst pure cerebellar ataxias (ADCA type 3). .. …
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.
At end stage, however, CRDs do not differ from RCDs. CRDs are most frequently non syndromic, but they may also be part of several syndromes, such as Bardet Biedl syndrome and Spinocerebellar Ataxia Type 7 (SCA7). Non syndromic CRDs are genetical …
At end stage, however, CRDs do not differ from RCDs. CRDs are most frequently non syndromic, but they may also be part of several …
Prodromal spinocerebellar ataxia type 2: Prospects for early interventions and ethical challenges.
Velázquez-Pérez L, Rodríguez-Labrada R, Laffita-Mesa JM. Velázquez-Pérez L, et al. Mov Disord. 2017 May;32(5):708-718. doi: 10.1002/mds.26969. Epub 2017 Mar 3. Mov Disord. 2017. PMID: 28256108 Review.
The characterization of prodromal stages in neurodegenerative disorders is becoming increasingly important because of the need for early neuroprotective therapies. Research during the past 3 decades in spinocerebellar ataxia type 2 has revealed a large body of evidence sug …
The characterization of prodromal stages in neurodegenerative disorders is becoming increasingly important because of the need for early neu …
Spinocerebellar ataxia in a cohort of patients from Rio de Janeiro.
Alvarenga MP, Siciliani LC, Carvalho RS, Ganimi MC, Penna PS. Alvarenga MP, et al. Neurol Sci. 2022 Aug;43(8):4997-5005. doi: 10.1007/s10072-022-06084-x. Epub 2022 Apr 25. Neurol Sci. 2022. PMID: 35469073 Review.
OBJECTIVE: The objective of this study is to describe the first series of spinocerebellar ataxia (SCA) in Rio de Janeiro, whose population has a high proportion of mixed Portuguese and African ancestry. ...This study revealed new aspects of ethnic influence in the clinical …
OBJECTIVE: The objective of this study is to describe the first series of spinocerebellar ataxia (SCA) in Rio de Janeiro, whose popul …
Ataxia-oculomotor apraxia syndrome.
Gascon GG, Abdo N, Sigut D, Hemidan A, Hannan MA. Gascon GG, et al. J Child Neurol. 1995 Mar;10(2):118-22. doi: 10.1177/088307389501000210. J Child Neurol. 1995. PMID: 7782601
We add to the clinical description of the ataxia-oculomotor apraxia syndrome by reporting eight patients, ages 2 to 15 years, from four families, suggesting autosomal recessive inheritance, with the longest follow-up over 6 years. After initial gait deterioration, all had …
We add to the clinical description of the ataxia-oculomotor apraxia syndrome by reporting eight patients, ages 2 to 15 years, from fo …
Transcranial sonography in ataxia.
Krogias C, Postert T, Eyding J. Krogias C, et al. Int Rev Neurobiol. 2010;90:217-35. doi: 10.1016/S0074-7742(10)90016-0. Int Rev Neurobiol. 2010. PMID: 20692505 Review.
Three TCS studies reported hyperechogenicity of substantia nigra (SN) as a frequent finding in spinocerebellar ataxia type 2, type 3, and type 17, indicating a vulnerability of the nigrostriatal system in SCA patients. ...
Three TCS studies reported hyperechogenicity of substantia nigra (SN) as a frequent finding in spinocerebellar ataxia type 2, type 3, …
Autosomal recessive cerebellar ataxias.
Palau F, Espinós C. Palau F, et al. Orphanet J Rare Dis. 2006 Nov 17;1:47. doi: 10.1186/1750-1172-1-47. Orphanet J Rare Dis. 2006. PMID: 17112370 Free PMC article. Review.
Correct clinical and genetic diagnosis is important for appropriate genetic counseling and prognosis and, in some instances, pharmacological treatment. Due to autosomal recessive inheritance, previous familial history of affected individuals is unlikely. ...
Correct clinical and genetic diagnosis is important for appropriate genetic counseling and prognosis and, in some instances, pharmaco …
Spinocerebellar ataxia type 12: clues to pathogenesis.
Cohen RL, Margolis RL. Cohen RL, et al. Curr Opin Neurol. 2016 Dec;29(6):735-742. doi: 10.1097/WCO.0000000000000385. Curr Opin Neurol. 2016. PMID: 27748686 Review.
PURPOSE OF REVIEW: Spinocerebellar ataxia type 12 (SCA12) is a rare autosomal dominant neurodegenerative disease characterized by tremor, gait abnormalities, and neuropsychiatric syndromes. ...First, the repeat may influence PPP2R2B expression, by altering promoter …
PURPOSE OF REVIEW: Spinocerebellar ataxia type 12 (SCA12) is a rare autosomal dominant neurodegenerative disease characterized by tre …
137 results