2018
DOI: 10.3390/ijms19020619
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Abstract: Stroke-like episodes (SLE) occur in phosphomannomutase deficiency (PMM2-CDG), and may complicate the course of channelopathies related to Familial Hemiplegic Migraine (FHM) caused by mutations in CACNA1A (encoding CaV2.1 channel). The underlying pathomechanisms are unknown. We analyze clinical variables to detect risk factors for SLE in a series of 43 PMM2-CDG patients. We explore the hypothesis of abnormal CaV2.1 function due to aberrant N-glycosylation as a potential novel pathomechanism of SLE and ataxia in… Show more

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Cited by 40 publications
(77 citation statements)
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“…7 It is present in the large majority of patients, even in those clinically less affected. 10 These findings support the hypothesis that deficient CaV2.1 N-glycosylation may participate in both cerebellar syndrome and SLEs in PMM2-CDG patients. 8,9 Among the acute neurological complications that may occur in PMM2-CDG patients, strokelike episodes (SLEs) are the most frightening events, as the underlying mechanism is unknown and there are no guidelines on management and prevention.…”
supporting
confidence: 82%
“…7 It is present in the large majority of patients, even in those clinically less affected. 10 These findings support the hypothesis that deficient CaV2.1 N-glycosylation may participate in both cerebellar syndrome and SLEs in PMM2-CDG patients. 8,9 Among the acute neurological complications that may occur in PMM2-CDG patients, strokelike episodes (SLEs) are the most frightening events, as the underlying mechanism is unknown and there are no guidelines on management and prevention.…”
supporting
confidence: 82%
“…In patients with PMM2‐CDG, the pathophysiology of stroke‐like episodes has yet to be characterized. Recently, their similarity with acute events in channelopathy related to familial hemiplegic migraine has offered a research approach . Even though there is no evidence of ischemic occlusion during stroke‐like episodes in PMM2‐CDG, the hypercoagulability state may still contribute to their development.…”
Section: Discussionmentioning
confidence: 99%
“…Recently, their similarity with acute events in channelopathy related to familial hemiplegic migraine has offered a research approach . Even though there is no evidence of ischemic occlusion during stroke‐like episodes in PMM2‐CDG, the hypercoagulability state may still contribute to their development. Indeed, as hypothesized in migraine with aura, the occurrence of a transient ischemic attack cannot be ruled out …”
Section: Discussionmentioning
confidence: 99%
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