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Page 1
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 …
Anti-Tr/DNER Antibody-Associated Cerebellar Ataxia: a Systematic Review.
Campana IG, Silva GD. Campana IG, et al. Cerebellum. 2022 Dec;21(6):1085-1091. doi: 10.1007/s12311-021-01346-4. Epub 2021 Nov 24. Cerebellum. 2022. PMID: 34817790 Review.
Ninety-one percent of the patients presented an associated tumor, being Hodgkin lymphoma the most common. Abnormal neuroimaging patterns included cerebellar atrophy (19%) and cerebellar hypersignal (6%). Cerebrospinal fluid was inflammatory in 64% of the patients. . …
Ninety-one percent of the patients presented an associated tumor, being Hodgkin lymphoma the most common. Abnormal neuroimaging patterns inc …
Neuropathy, Ataxia, and Retinitis Pigmentosa Syndrome.
Finsterer J. Finsterer J. J Clin Neuromuscul Dis. 2023 Mar 1;24(3):140-146. doi: 10.1097/CND.0000000000000422. J Clin Neuromuscul Dis. 2023. PMID: 36809201
Noncanonical phenotypic features in NARP include epilepsy, cerebral or cerebellar atrophy, optic atrophy, cognitive impairment, dementia, sleep apnea syndrome, hearing impairment, renal insufficiency, and diabetes. ...
Noncanonical phenotypic features in NARP include epilepsy, cerebral or cerebellar atrophy, optic atrophy, cognitive impairment …
Dissecting the Phenotype and Genotype of PLA2G6-Related Parkinsonism.
Magrinelli F, Mehta S, Di Lazzaro G, Latorre A, Edwards MJ, Balint B, Basu P, Kobylecki C, Groppa S, Hegde A, Mulroy E, Estevez-Fraga C, Arora A, Kumar H, Schneider SA, Lewis PA, Jaunmuktane Z, Revesz T, Gandhi S, Wood NW, Hardy JA, Tinazzi M, Lal V, Houlden H, Bhatia KP. Magrinelli F, et al. Mov Disord. 2022 Jan;37(1):148-161. doi: 10.1002/mds.28807. Epub 2021 Oct 8. Mov Disord. 2022. PMID: 34622992
Early psychiatric manifestations and bladder overactivity are common. Cerebro/cerebellar atrophy are frequent magnetic resonance imaging features, whereas brain iron deposition is not. ...
Early psychiatric manifestations and bladder overactivity are common. Cerebro/cerebellar atrophy are frequent magnetic resonan …
Cerebellar Symptoms in Gluten Sensitivity: a Systematic Review of the Effect of a Gluten-Free Diet on Brain Imaging.
Schmidt JJ, Tolentino JC, Lacerda GCB, Schmidt GJ, van Duinkerken E, Schmidt SL. Schmidt JJ, et al. Cerebellum. 2022 Dec;21(6):1014-1024. doi: 10.1007/s12311-021-01331-x. Epub 2021 Oct 11. Cerebellum. 2022. PMID: 34633603 Review.
Magnetic resonance imaging was used in 100% of the studies. Cerebellar atrophy was evaluated in 7 studies and observed in 63% of the patients. ...An increase in the Naa/Cr ratio in cerebellar vermis was seen in 98% of the cases on a strict GFD. Cerebellar
Magnetic resonance imaging was used in 100% of the studies. Cerebellar atrophy was evaluated in 7 studies and observed in 63% …
Phenytoin and damage to the cerebellum - a systematic review of published cases.
Ferner R, Day R, Bradberry SM. Ferner R, et al. Expert Opin Drug Saf. 2022 Jul;21(7):957-977. doi: 10.1080/14740338.2022.2058487. Epub 2022 Apr 20. Expert Opin Drug Saf. 2022. PMID: 35325581
Median serum phenytoin concentration (48 cases) was 50 (interquartile range 31-66) mg/L; only three values were below 20 mg/L. The radiological findings included cerebellar atrophy in 41 of 61 patients (67%) with at least one scan. ...Clinical signs of ataxia can pe …
Median serum phenytoin concentration (48 cases) was 50 (interquartile range 31-66) mg/L; only three values were below 20 mg/L. The radiologi …
A Systematic Review on Anti-Yo/PCA-1 Antibody: Beyond Cerebellar Ataxia in Middle-Aged Women with Gynecologic Cancer.
Mendes NT, Ronchi NR, Silva GD. Mendes NT, et al. Cerebellum. 2023 Dec;22(6):1287-1292. doi: 10.1007/s12311-022-01492-3. Epub 2022 Nov 5. Cerebellum. 2023. PMID: 36334195 Review.
Vertigo and imbalance can be present early in the disease course in about two thirds of patients, as a prodromal phase. Although neuroimaging usually is normal or shows cerebellar atrophy, inflammatory changes may also be present. More than half of the patients repo …
Vertigo and imbalance can be present early in the disease course in about two thirds of patients, as a prodromal phase. Although neuroimagin …
Severe Cerebellar Degeneration and Chiari I Malformation - Speculative pathophysiology based on a systematic review.
Joaquim AF. Joaquim AF. Rev Assoc Med Bras (1992). 2020 Mar;66(3):375-379. doi: 10.1590/1806-9282.66.3.375. Rev Assoc Med Bras (1992). 2020. PMID: 32520161 Free article.
We have noticed some cases with concomitant severe cerebellar ataxia due to cerebellar atrophy. The aim of this study is to review the literature of CM associated with severe cerebellar atrophy and discuss its potential physiopathology. ...Additionally …
We have noticed some cases with concomitant severe cerebellar ataxia due to cerebellar atrophy. The aim of this study is to re …
Magnetic resonance imaging and positron emission tomography in anti-NMDA receptor encephalitis: A systematic review.
Bacchi S, Franke K, Wewegama D, Needham E, Patel S, Menon D. Bacchi S, et al. J Clin Neurosci. 2018 Jun;52:54-59. doi: 10.1016/j.jocn.2018.03.026. Epub 2018 Mar 28. J Clin Neurosci. 2018. PMID: 29605275 Review.
The only MRI finding with prognostic significance at this stage is progressive cerebellar atrophy. FDG-PET has been assessed in a few small studies and can demonstrate abnormalities in cases where MRI does not. ...
The only MRI finding with prognostic significance at this stage is progressive cerebellar atrophy. FDG-PET has been assessed i …
16 results