Genetic testing in Parkinson's disease

✍ Scribed by Aideen McInerney-Leo

• Publisher: John Wiley and Sons
• Year: 2005
• Tongue: English
• Weight: 65 KB
• Volume: 20
• Category: Article
• ISSN: 0885-3185
• DOI: 10.1002/mds.20509

✦ Synopsis

iology was found. Our case documents the occurrence of this unusual myoclonus physiology in biopsy-proven Lafora disease. Indeed, the movement disorder neurophysiology evaluation was more useful in terms of defining a myoclonus physiology than routine EEG.

Wilkins and colleagues 4 first described this myoclonus physiology in 1985. They reported 11 cases, with varying syndrome diagnoses without histologic confirmation, showing small amplitude, multifocal myoclonus of the hands and fingers. 4 They described two patterns, one of EEG bifrontal/ bifrontocentral cerebral negativity of long duration (100 -250 msec) and of variable premyoclonus onset of 5 to 500 msec with some occurrence of bisynchronous myoclonus EMG discharges. 4 The second pattern described was a bifrontal negativity of 30-to 100-msec duration with a premyoclonus onset of 40 to 60 msec. The back-averaged EEG discharge of the patient presented here more closely resembled the first pattern. Like our patient, none of these patients had reflex myoclonus. It is believed that primary generalized epileptic myoclonus is a fragment of primary generalized epilepsy and that subcortical influences may play a part in producing the bilateral EEG discharge. 5