{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,29]],"date-time":"2026-10-29T17:10:35Z","timestamp":1793293835795,"version":"4.5.0"},"reference-count":37,"publisher":"Wiley","issue":"16","license":[{"start":{"date-parts":[[2007,9,25]],"date-time":"2007-09-25T00:00:00Z","timestamp":1190678400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2007,12,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Cortical hyperexcitability is a feature of \u201cfamilial cortical myoclonic tremor with epilepsy\u201d (FCMTE). However, neuropathological investigations in a single FCMTE patient showed isolated cerebellar pathology. Pathological investigations in a second FCMTE patient, reported here, confirmed cerebellar Purkinje cell degeneration and a normal sensorimotor cortex. Subsequently, we sought to explore the nature of cerebellar and motor system pathophysiology in FCMTE. Eye movement recordings and transcranial magnetic stimulation performed in six related FCMTE patients showed impaired saccades and smooth pursuit and downbeat nystagmus upon hyperventilation, as in patients with spinocerebellar ataxia type 6. In FCMTE patients short\u2010interval intracortical inhibition (SICI) was significantly reduced. Resting motor threshold, recruitment curve, silent period, and intracortical facilitation were normal. The neuropathological and ocular motor abnormalities indicate cerebellar involvement in FCMTE patients. Decreased SICI is compatible with intracortical GABA<jats:sub>A<\/jats:sub>\u2010ergic dysfunction. Cerebellar and intracortical functional changes could result from a common mechanism such as a channelopathy. Alternatively, decreased cortical inhibition may be caused by dysfunction of the cerebello\u2010thalamo\u2010cortical loop as a result of primary cerebellar pathology. \u00a9 2007 Movement Disorder Society<\/jats:p>","DOI":"10.1002\/mds.21738","type":"journal-article","created":{"date-parts":[[2007,9,25]],"date-time":"2007-09-25T16:47:25Z","timestamp":1190738845000},"page":"2378-2385","source":"Crossref","is-referenced-by-count":52,"title":["Decreased cortical inhibition and yet cerebellar pathology in \u2018familial cortical myoclonic tremor with epilepsy\u2019"],"prefix":"10.1002","volume":"22","author":[{"given":"Anne\u2010Fleur","family":"van Rootselaar","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandra M.A.","family":"van der Salm","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lo 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