Sex-specific alterations of Purkinje cell firing in Sgce knockout mice and correlations with myoclonus DOI Creative Commons

Hong Xing,

Pallavi Girdhar,

Fumiaki Yokoi

и другие.

Dystonia, Год журнала: 2025, Номер 4

Опубликована: Март 18, 2025

Myoclonus is a hyperkinetic movement disorder characterized by sudden, brief, involuntary jerks of single or multiple muscles. Dystonia sustained intermittent muscle contractions causing abnormal, often repetitive, movements, postures, both. Myoclonus-dystonia (M-D) DYT11 dystonia an early-onset genetic subcortical myoclonus and less pronounced dystonia. the primary M-D caused loss function mutations in SGCE , which codes for ε-sarcoglycan. Sgce knockout (KO) mice model exhibit myoclonus, motor deficits, psychiatric-like behaviors. Neuroimaging studies show abnormal cerebellar activity patients. Acute small hairpin RNA (shRNA) knockdown mRNA adult cerebellum leads to myoclonic-like jerky altered Purkinje cell firing. Whether KO similar firing as acute shRNA unknown. We used slice recording address this issue. The cells from showed spontaneous intrinsic excitability changes compared wild-type (WT) mice. Intrinsic membrane properties were not altered. female had more profound alterations than males, may correspond early onset symptoms human patients Our results suggest that contributes manifestation other

Язык: Английский

Sex-specific alterations of Purkinje cell firing in Sgce knockout mice and correlations with myoclonus DOI Creative Commons

Hong Xing,

Pallavi Girdhar,

Fumiaki Yokoi

и другие.

Dystonia, Год журнала: 2025, Номер 4

Опубликована: Март 18, 2025

Myoclonus is a hyperkinetic movement disorder characterized by sudden, brief, involuntary jerks of single or multiple muscles. Dystonia sustained intermittent muscle contractions causing abnormal, often repetitive, movements, postures, both. Myoclonus-dystonia (M-D) DYT11 dystonia an early-onset genetic subcortical myoclonus and less pronounced dystonia. the primary M-D caused loss function mutations in SGCE , which codes for ε-sarcoglycan. Sgce knockout (KO) mice model exhibit myoclonus, motor deficits, psychiatric-like behaviors. Neuroimaging studies show abnormal cerebellar activity patients. Acute small hairpin RNA (shRNA) knockdown mRNA adult cerebellum leads to myoclonic-like jerky altered Purkinje cell firing. Whether KO similar firing as acute shRNA unknown. We used slice recording address this issue. The cells from showed spontaneous intrinsic excitability changes compared wild-type (WT) mice. Intrinsic membrane properties were not altered. female had more profound alterations than males, may correspond early onset symptoms human patients Our results suggest that contributes manifestation other

Язык: Английский

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