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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 2
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 4
2024 2

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40 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 …
Sleep and degenerative neurologic disorders.
Chokroverty S. Chokroverty S. Neurol Clin. 1996 Nov;14(4):807-26. doi: 10.1016/s0733-8619(05)70286-3. Neurol Clin. 1996. PMID: 8923496 Review.
This article summarizes sleep disturbances in a variety of neuro-degenerative diseases, including Parkinson's disease, multiple system atrophy, and amyotrophic lateral sclerosis. Sleep complaints in these conditions include insomnia, hypersomnia, abnormal motor acti …
This article summarizes sleep disturbances in a variety of neuro-degenerative diseases, including Parkinson's disease, multiple system at …
New Views of the DNA Repair Protein Ataxia-Telangiectasia Mutated in Central Neurons: Contribution in Synaptic Dysfunctions of Neurodevelopmental and Neurodegenerative Diseases.
Briguglio S, Cambria C, Albizzati E, Marcello E, Provenzano G, Frasca A, Antonucci F. Briguglio S, et al. Cells. 2023 Aug 30;12(17):2181. doi: 10.3390/cells12172181. Cells. 2023. PMID: 37681912 Free PMC article. Review.
Mutations in the Atm gene lead to Ataxia-Telangiectasia (AT), a recessive disorder characterized by ataxic movements consequent to cerebellar atrophy or dysfunction, along with immune alterations, genomic instability, and predisposition to cancer. ...C …
Mutations in the Atm gene lead to Ataxia-Telangiectasia (AT), a recessive disorder characterized by ataxic movements consequent to …
Genetics of hereditary spastic paraplegias.
Schüle R, Schöls L. Schüle R, et al. Semin Neurol. 2011 Nov;31(5):484-93. doi: 10.1055/s-0031-1299787. Epub 2012 Jan 21. Semin Neurol. 2011. PMID: 22266886 Review.
The key symptom of spastic paraparesis of lower limbs can be complicated by a variety of signs and symptoms including cognitive impairment, optic atrophy, cerebellar ataxia, peripheral nerve involvement, or seizures. ...
The key symptom of spastic paraparesis of lower limbs can be complicated by a variety of signs and symptoms including cognitive impairment, …
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 …
40 results