Cerebral Blood Flow Deficits in Hereditary Essential Myoclonus

Frontotemporal and Striatal SPECT Abnormalities in Myoclonus-Dystonia: Phenotypic and Pathogenetic Considerations

“…The only SPECT study in a case of hereditary essential myoclonus (one of the earlier names for MD), using 133 Xe inhalation SPECT, reported reduced frontotemporal and mildly reduced subcortical rCBFs [23][24][25][26] . We report a similar pattern.…”

Frontotemporal and Striatal SPECT Abnormalities in Myoclonus-Dystonia: Phenotypic and Pathogenetic Considerations

“…The only SPECT study in a case of hereditary essential myoclonus (one of the earlier names for MD), using 133 Xe inhalation SPECT, reported reduced frontotemporal and mildly reduced subcortical rCBFs [23][24][25][26] . We report a similar pattern.…”

Myoclonus‐dystonia: An update

“…However, short‐interval (mediation by GABA A receptors) and long‐interval (mediation by GABA B receptors) intracortical inhibition was normal in TMS studies,47, 80 suggesting a functionally intact gabaergic cortical inhibitory system in M‐D. Finally, Single‐photon emission computed tomography (SPECT) findings in two M‐D patients have been reported,90, 91 with reduced fronto‐temporal and cortical regional cerebral blood flow.…”

Myoclonic Disorders

“…Until the 1980s, several small case series have reported essential myoclonus as an autosomal dominant trait in families without evidence of other clinical symptoms, often responsive to alcohol or clonazepam [ 98 , 99 , 100 , 101 , 102 , 103 ]. Segmental as well as multifocal myoclonus of the upper body has been described.…”

Frontotemporal and Striatal SPECT Abnormalities in Myoclonus-Dystonia: Phenotypic and Pathogenetic Considerations

“…The only SPECT study in a case of hereditary essential myoclonus (one of the earlier names for MD), using 133 Xe inhalation SPECT, reported reduced frontotemporal and mildly reduced subcortical rCBFs [23][24][25][26] . We report a similar pattern.…”

Myoclonus‐dystonia: An update

“…However, short‐interval (mediation by GABA A receptors) and long‐interval (mediation by GABA B receptors) intracortical inhibition was normal in TMS studies,47, 80 suggesting a functionally intact gabaergic cortical inhibitory system in M‐D. Finally, Single‐photon emission computed tomography (SPECT) findings in two M‐D patients have been reported,90, 91 with reduced fronto‐temporal and cortical regional cerebral blood flow.…”

Myoclonic Disorders

“…Until the 1980s, several small case series have reported essential myoclonus as an autosomal dominant trait in families without evidence of other clinical symptoms, often responsive to alcohol or clonazepam [ 98 , 99 , 100 , 101 , 102 , 103 ]. Segmental as well as multifocal myoclonus of the upper body has been described.…”

Frontotemporal and Striatal SPECT Abnormalities in Myoclonus-Dystonia: Phenotypic and Pathogenetic Considerations

“…The only SPECT study in a case of hereditary essential myoclonus (one of the earlier names for MD), using 133 Xe inhalation SPECT, reported reduced frontotemporal and mildly reduced subcortical rCBFs [23][24][25][26] . We report a similar pattern.…”

Myoclonus‐dystonia: An update

“…However, short‐interval (mediation by GABA A receptors) and long‐interval (mediation by GABA B receptors) intracortical inhibition was normal in TMS studies,47, 80 suggesting a functionally intact gabaergic cortical inhibitory system in M‐D. Finally, Single‐photon emission computed tomography (SPECT) findings in two M‐D patients have been reported,90, 91 with reduced fronto‐temporal and cortical regional cerebral blood flow.…”

Myoclonic Disorders

“…Until the 1980s, several small case series have reported essential myoclonus as an autosomal dominant trait in families without evidence of other clinical symptoms, often responsive to alcohol or clonazepam [ 98 , 99 , 100 , 101 , 102 , 103 ]. Segmental as well as multifocal myoclonus of the upper body has been described.…”