627: Diagnosing bumps in the night: Distinguishing para-

somnias from NFLE using video EEG monitoring

Christopher P. Derry a, Simon Harvey a, John Duncan b,

Matthew Walker b, Samuel F. Berkovic a; a University of

Melbourne; b National Hospital for Neurology and

Neurosurgery, Queen Square, United Kingdom

Background: The NREM arousal parasomnias (whichinclude confusional arousals, somnambulism and sleep ter-rors) are characterised by paroxysmal motor behaviourswithout conscious awareness arising from deep NREMsleep. Although benign, they are a source of diagnosticconfusion, particularly with Nocturnal Frontal Lobe Epi-lepsy (NFLE). While video EEG monitoring is the bestavailable diagnostic test in this situation, the ictal EEG isoften unhelpful and ictal semiology forms the basis of adiagnosis. No systematic study of the semiology of NREMarousal parasomnias exists, nor any comparison with theictal features of NFLE. In this study we delineate thevideo-EEG characteristics of the NREM parasomnias,and compare them with NFLE.

Subjects: 56 NREM parasomnias from 23 subjects and60 nocturnal frontal lobe seizures from 23 subjects wereanalysed.

Analysis: (1) Quantitative analysis of event semiologywas assessed through presence or absence of 110 elemen-tal clinical features (respiratory, autonomic, simplemotor, complex motor, vocal and others). Cluster analy-sis was used to group the events, and the composition ofthese groups was further analysed using recognised statis-tical methods. (2) Detailed qualitative descriptions ofevents and evolution patterns were generated in eachcase.

Results: While subgroups of parasomnias and NFLEemerge on cluster analysis, significant overlap exists inthe behaviours observed. Clear differences are observed inthe qualitative nature of these behaviours, however, whichwill be discussed and demonstrated.

Conclusion: While NFLE and parasomnias show simi-larities, there are features which may be useful in distin-guishing them.

doi:10.1016/j.jocn.2007.02.058

628: Cellular and tissue distribution of globotriaosylceramide

in fabry disease

Hasan Askari a, David Kleiner a, Chris Kaneski a, Linda

Spollen b, Raphael Schiffmann c; a National Institutes of

Health, United States; b University of Missouri in

Columbia, United States; c National Institutes ofNerological Disorders and Stroke, United States

Background: Fabry disease (FD) is an X-linked disorderof glycosphingolipid catabolism due to a deficiency of lyso-somal enzyme a-galactosidase A. This defect results in

accumulation of mostly globotriaosylceramide (Gb3)within cells causing a systemic disorder including vasculop-athy that leads to strokes, cardiovascular and renal dys-function. Enzyme replacement therapy (ERT) producesmodest effect only and no reduction in the risk of strokesand other vascular events.

Hypothesis: In FD, Gb3 has an extra-lysosomal distri-bution even in the absence of visible lysosomal inclusions.

Objective: (1) To determine the pattern of accumulationof Gb3 in vascular and non vascular tissues in FD. (2) Tocompare the staining characteristics of atherosclerotic(AS)lesions in Fabry patients with those in non-Fabry patientsand healthy controls.

Methods: We studied (a) slides from autopsy of a 47-year-old man with FD, with widespread ASCAD that cul-minated in a massive acute myocardial infarction (AMI)(b) slides from 3 male patients without FD who died ofAMI and, (c) slides from a patient who did not die ofMI. Immunohistochemistry with anti-Gb3 Ab (SeikagakuCorp.) was performed on all slides from different segmentsof right and left coronary arteries and aorta (Fabry patientonly).

Results: In all the slides of Fabry patient, we foundintense diffuse Gb3 staining in vascular tissue throughoutincluding lysosomal inclusions and extra-lysosomal cyto-plasmic and membranous structures. In particular, vascu-lar endothelial cells, previously shown to be devoid ofglycolipid deposits, stained diffusely for Gb3. The stainingwith anti-Gb3 Ab was markedly decreased in all slides ofnon-Fabry patients.

Conclusions: (1) Gb3 accumulates throughout the cells,not only in lysosomes. (2) Extra-lysosomal accumulationof Gb3 may play an important role in FD vasculopathy.(3) Repeated infusions with a-gal A do not appreciablyclear Gb3 from extralysosomal sites (4) Limited cellularavailability of the infused enzyme probably causes partialresponse to ERT.

doi:10.1016/j.jocn.2007.02.059

629: Migrainous angiopathy and intracerebral haemorrhageRichard P. Gerraty, Christopher Thien, Nicholas M.

Trost; St Vincent’s Hospital

Purpose: Thunderclap headache without aneurysmalsubarachnoid haemorrhage can be complicated by an angi-opathy with segmental narrowing and ischaemia of thebrain but intracerebral haemorrhage is rare. We report acase to draw attention to this uncommon sequela of a sup-posedly benign condition.

Results: A 55 year old woman developed sudden severeheadache at a wedding. Over the ensuing 4 days headachepersisted without focal neurological symptoms and on the5th day she was well and able to return to work. On the6th day she developed further headache and blurred

Abstracts / Journal of Clinical Neuroscience 14 (2007) 1009–1040 1027