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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1981 1
1985 1
1989 1
1992 1
1993 2
1994 2
1996 2
1997 1
1998 1
2003 1
2004 1
2005 1
2008 1
2010 1
2011 3
2012 1
2014 2
2015 1
2016 2
2017 1
2018 3
2020 1
2021 6
2022 3
2023 2

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37 results

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Page 1
A Diagnostic Approach to Spastic ataxia Syndromes.
Pedroso JL, Vale TC, França Junior MC, Kauffman MA, Teive H, Barsottini OGP, Munhoz RP. Pedroso JL, et al. Cerebellum. 2022 Dec;21(6):1073-1084. doi: 10.1007/s12311-021-01345-5. Epub 2021 Nov 15. Cerebellum. 2022. PMID: 34782953 Review.
Spastic ataxia is characterized by the combination of cerebellar ataxia with spasticity and other pyramidal features. It is the hallmark of some hereditary ataxias, but it can also occur in some spastic paraplegias and acquired conditions. It often presents with heterogeno …
Spastic ataxia is characterized by the combination of cerebellar ataxia with spasticity and other pyramidal features. It is the hallm …
Calcium channelopathies and intellectual disability: a systematic review.
Kessi M, Chen B, Peng J, Yan F, Yang L, Yin F. Kessi M, et al. Orphanet J Rare Dis. 2021 May 13;16(1):219. doi: 10.1186/s13023-021-01850-0. Orphanet J Rare Dis. 2021. PMID: 33985586 Free PMC article. Review.
Overall, the underlying mechanisms included gain- and/ or loss-of-function, alteration in kinetics (activation, inactivation) and dominant-negative effects of truncated forms of alpha1 subunits. Forty of the identified cases featured cerebellar atrophy. We identifie …
Overall, the underlying mechanisms included gain- and/ or loss-of-function, alteration in kinetics (activation, inactivation) and dominant-n …
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.
Certain spastic paraplegias, such as spastic paraplegia 7, may present as an ataxic phenotype and often share common pathophysiologic pathways with cerebellar ataxias. Because of the rarity and genetic heterogeneity of these conditions, their molecular diagnosis remains ch …
Certain spastic paraplegias, such as spastic paraplegia 7, may present as an ataxic phenotype and often share common pathophysiologic pathwa …
Neurological manifestations in autoinflammatory diseases.
Uccelli A, Gattorno M. Uccelli A, et al. Clin Exp Rheumatol. 2018 Jan-Feb;36 Suppl 110(1):61-67. Epub 2018 May 3. Clin Exp Rheumatol. 2018. PMID: 29742058 Free article. Review.
The clinical spectrum of these conditions is extremely variable and possibly every system and tissue can be involved, including the central nervous system (CNS). Indeed, neurological manifestations may dominate the clinical picture from disease onset in some rare condition …
The clinical spectrum of these conditions is extremely variable and possibly every system and tissue can be involved, including the central …
Motor systems and postural instability.
Vassar RL, Rose J. Vassar RL, et al. Handb Clin Neurol. 2014;125:237-51. doi: 10.1016/B978-0-444-62619-6.00015-X. Handb Clin Neurol. 2014. PMID: 25307579 Review.
Chronic alcoholism results in postural tremors and excessive sway during quiet stance that can persist even after sobriety is achieved. Underlying neurologic changes due to chronic alcoholism have been found to be associated with these characteristic postural changes and i …
Chronic alcoholism results in postural tremors and excessive sway during quiet stance that can persist even after sobriety is achieved. Unde …
Documenting manifestations and impacts of autosomal recessive spastic ataxia of Charlevoix-Saguenay to develop patient-reported outcome.
Tremblay M, Girard-Côté L, Brais B, Gagnon C. Tremblay M, et al. Orphanet J Rare Dis. 2022 Oct 1;17(1):369. doi: 10.1186/s13023-022-02497-1. Orphanet J Rare Dis. 2022. PMID: 36183078 Free PMC article. Review.
BACKGROUND: Autosomal recessive cerebellar ataxias (ARCA) are a group of rare inherited disorders characterized by degeneration or abnormal development of the cerebellum. ...RESULTS: According to the PROMIS framework, the results show manifestations an …
BACKGROUND: Autosomal recessive cerebellar ataxias (ARCA) are a group of rare inherited disorders characterized by degeneratio …
ELP2 compound heterozygous variants associated with cortico-cerebellar atrophy, nodular heterotopia and epilepsy: Phenotype expansion and review of the literature.
Russo A, Forest C, Leone GJ, Iascone M, Tenconi R, Maffei M, Cersosimo A, Cordelli DM, Suppiej A. Russo A, et al. Eur J Med Genet. 2021 Dec;64(12):104361. doi: 10.1016/j.ejmg.2021.104361. Epub 2021 Oct 12. Eur J Med Genet. 2021. PMID: 34653680 Review.
ELP2 gene pathogenic variants have been reported to be associated with several neurodevelopmental disorders, such as intellectual disability, severe motor development delay with truncal hypotonia, spastic diplegia, choreoathetosis, short stature and neuropsyc …
ELP2 gene pathogenic variants have been reported to be associated with several neurodevelopmental disorders, such as intellect …
Neurological findings in incontinentia pigmenti; a review.
Meuwissen ME, Mancini GM. Meuwissen ME, et al. Eur J Med Genet. 2012 May;55(5):323-31. doi: 10.1016/j.ejmg.2012.04.007. Epub 2012 May 4. Eur J Med Genet. 2012. PMID: 22564885 Review.
Incontinentia Pigmenti is a rare X-linked multisystem disorder with well described and pathognomonic skin manifestations. ...Brain MRI findings include periventricular and subcortical white matter disease, haemorrhagic changes, corpus callosum hypoplasia, cerebral …
Incontinentia Pigmenti is a rare X-linked multisystem disorder with well described and pathognomonic skin manifestations. ...B …
Cerebellar disorders in childhood: cognitive problems.
Steinlin M. Steinlin M. Cerebellum. 2008;7(4):607-10. doi: 10.1007/s12311-008-0083-3. Epub 2008 Dec 5. Cerebellum. 2008. PMID: 19057977 Free article. Review.
Neuropsychological studies reveal a relation of dyslexia and attention deficit disorder with cerebellar functions. These functional studies are supported by structural abnormalities in neuroimaging in these disorders. ...In ataxia teleangiectasia, a neurodege …
Neuropsychological studies reveal a relation of dyslexia and attention deficit disorder with cerebellar functions. These funct …
Coloboma may be a shared feature in a spectrum of disorders caused by mutations in the WDR37-PACS1-PACS2 axis.
Sakaguchi Y, Yoshihashi H, Uehara T, Miyama S, Kosaki K, Takenouchi T. Sakaguchi Y, et al. Am J Med Genet A. 2021 Mar;185(3):884-888. doi: 10.1002/ajmg.a.62020. Epub 2020 Dec 27. Am J Med Genet A. 2021. PMID: 33369122 Review.
Clinically, coloboma has been described as a feature in a WDR37-related disorder and a PACS1-related disorder (Schuurs-Hoeijmakers syndrome), but not in a PACS2-related disorder. Our review of the phenotypes of three human disorders caused by WDR37, PA …
Clinically, coloboma has been described as a feature in a WDR37-related disorder and a PACS1-related disorder (Schuurs-Hoeijma …
37 results