340 Abstracts / Journal of Clinical Neuroscience 15 (2008) 337–369

to interrupt their physical activity. The second windphenomenon was reported by three patients. Three patientsreported discomfort in jaw muscle with forceful chewing.One or more episodes of myoglobinuria had occurred inthree patients. Limb weakness, usually mild, was foundin three patients. The serum creatine kinase (CK) was ele-vated in all patient where this had been measured, alwaysat least 2.5-fold higher than the upper limit of normal.Six patients were heterozygous (4) or homozygous (2) forR49X, the common mutation in myophosphorylase defi-ciency. Three of the heterozygous patients harbouredanother common mutation, G204S. The fourth harbouredthe R49X mutation and 2336_2338delA, a mutation previ-ously reported in a consanguineous Turkish family. Theremaining patient harboured two novel mutations.

Conclusion: The clinical presentation of patients withmyophosphorylase deficiency is in our experience strikinglyuniform. Analysis of the PYGM gene showed the commonmutations in six patients and two novel mutations in theremaining patient.

doi:10.1016/j.jocn.2007.07.011

Platform Presenters

501: Some important aspects of medicine in Vienna over thecenturies

Peter T. Patrikios; Centre for Brain Research, Austria

The Vienna Medical School has existed for over 200years in one form or another. The Empress Maria Theresaplayed a major role in creating this formidable institution.She appointed the Dutchman Gerard van Swieten, whowas to become the founder of the school. He introducednumerous initiatives which the empress willingly allowedhim to enact. These affected not just the medical facultybut the entire university. One such reform stipulated thatall patients who died in the large university hospitals,which had over 3000 beds, must undergo an autopsy. Thissimple decree by the empress led to Vienna becoming a cen-tre for many fields of medicine, in particular, anatomy,pathology, surgery, and later neurology. The Empress’son, Joseph II, would continue her reforming work. Overthe years the school has produced an enormous numberof researchers who have contributed to a variety of fields,in some cases even laying the groundwork for that fieldas a separate specialty or discipline. Carl von Rokitansky,the renowned pathologist, elevated this specialty to greatimportance and helped turn medicine into a more rigorousscientific undertaking than had previously been practiced.He himself performed over 10000 autopsies. The schoolhas produced such notable physicians, surgeons, anato-mists and pathologists as Barany, Benedikt, Billroth, Boor-haave, Chiari, Chvostek, Gerstmann, Kaposi, Landsteiner,

Marburg, Meynert, Nothnagel, Schilder, Semmelweiss, andvon Economo. This discussion will highlight some of theimportant events in the history of medicine in Viennaand some of the many advances made by its researchers.

doi:10.1016/j.jocn.2007.07.012

502: Queen Square, Richardson, Robertson and PSP before

1964David R. Williams a, John C. Steele b, John R. Wherret c,

Andrew J. Lees d; a Faculty of Medicine (Neuroscience),

Monash University (Alfred Hospital Campus), Australia;b Micronesian Health Study II, Guam; c Division of

Neurology, Toronto Western Hospital, Canada; d Reta Lila

Weston Institute for Neurological Studies, United Kingdom

Purpose: To record the historical events associated withthe first clinical identification of progressive supranuclearpalsy (PSP) by JC Richardson in Toronto 50 years ago.

Methods: Primary sources of information included inter-views with John Steele, John Wherret and Andrew Lees, aswell as examination of archival film made by E GraemeRobertson.

Results: 50 years ago, Canadian neurologist J. CliffordRichardson identified patients in Toronto with a syndromeof supranuclear vertical gaze palsy, pseudobulbar palsy,axial rigidity and cognitive impairment. Although muchscepticism surrounded his predication that the nosologicalentity he termed PSP existed outside of Toronto, it is nowacknowledged as a sporadic primary tauopathy that is ascommon as ALS. Allusions to a similar syndrome can befound in the writings of English novelist Charles Dickens,and possible cases were also reported from Charcot’s clinicat the turn of the nineteenth century. Richardson’s neurol-ogy training was exclusively at the National Hospital inQueen Square, where he was strongly influenced by Gor-don Holmes and Charles Symonds. Robertson took somecandid film footage in the 1950s of his Neurological col-leagues, including documentation of the long lineage ofexperienced (and famous) Neurologists who would haveworked with Richardson during his time at Queen Square.In one, filmed in Melbourne in 1954, Macdonald Critchleyappears to simulate the gait of a patient with PSP.

Conclusions: It is likely that Richardson’s Queen Squareexperience exposed him to patients with unusual movementdisorders and perhaps even patients with PSP. Although hedoes not mention any British cases, in his seminal descrip-tion, Richardson predicted that further clinicopathologicalobservations would broaden the clinical syndrome and thatPSP was unlikely to be a disorder restricted to the Torontoregion. It is possible that Robertson had also recognised thedifferences between these patients and Parkinson’s disease.

doi:10.1016/j.jocn.2007.07.013