We present new data on the original Austrian kindred with Gerstmann-Sträussler-Scheinker disease (GSS) which encompasses currently 221 members in 9 generations. The mode of inheritance is autosomal dominant. Predominant clinical features are slowly progressive ataxia and late impairment of higher cerebral functions. In contrast, a recent case with proven P102L mutation of the PRNP gene had rapidly developing dementia and severe cortical damage indistinguishable from the clinicopathological phenotype of Creutzfeldt-Jakob disease (CJD). PRNP codon 129 was homozygous for methionine in both the historic and recent cases. Neuropathology confirms spongiosis of variable degree and numerous protease resistant/prion protein (PrP) amyloid plaques scattered throughout most of the brain as constant features in this family. Some amyloid deposits are surrounded by dystrophic neurites with accumulation of phosphorylated neurofilaments and abnormal organelles, reminiscent of Alzheimer-type plaques. Severe telencephalic damage and a synaptic-type fine granular immunoreactivity in laminar distribution in the cortex with anti-PrP after hydrated autoclaving of sections were seen only in the recent patient. In conclusion, factors in addition to the PRNP genotype at codons 102 and 129 must play a role in determining clinicopathological characteristics of this inherited brain amyloidosis.

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We determined central motor conduction time (CMCT) (motor cortex to root C-8 and motor cortex to root S-1) as well as the amplitude of the compound muscle action potentials in the hypothenar and the abductor hallucis muscles on both sides in 44 patients with definite MS. We compared the values with standards obtained from 86 healthy controls and correlated them with the degree of clinical deficit of the limbs examined. Thirty-nine patients (88.6%) showed a prolonged CMCT. By comparison, only 74.4% of patients had abnormal visual evoked potentials.

Acute treatment of myasthenic crisis with immunoadsorption (IA) or plasma exchange is well established. The efficiency of chronic apheresis therapy in myasthenia gravis (MG), however, and its efficacy in reducing concomitant potentially harmful immunosuppressive therapy, is unknown. We treated 13 patients with therapy-resistant MG or severe steroid or azathioprine therapy-related side effects, or both, with long-term IA [median, 38 (range: 16-59) months]. IA was performed every second day until partial remission was achieved (modified Osserman score <2). Subsequently, oral immunosuppressive therapy was reduced and the frequency of IA adapted to the clinical symptoms. After initiation of IA the mean (SEM) Osserman score decreased from 3.23 +/- 0.12 to 1.23 +/- 0.08 within 1 month (P < 0.01). Mean azathioprine dose was reduced concomitantly from 89 +/- 9.4 mg/day to 56 +/- 11 mg/day (P < 0.05), and mean prednisolone dose from 41 +/- 7.6 mg/day to 22 +/- 8.5 mg/day (P < 0.05). After 36 months the number of IA-sessions/month had been reduced from 4.81 +/- 0.24 to 2.64 +/- 0.4 (P < 0.05), the mean azathioprine dose to 25 +/- 17 mg/day and the mean prednisolone dose to 9 +/- 3.6 mg/day. Six out of thirteen patients were weaned from IA after a median of 33 (range, 16-50) months and a decrease of the Osserman score to 0.33 +/- 0.33. In these patients MG remained stable during a follow-up period of 28 (range, 16-38) months. We conclude that long-term IA enables the reduction of oral immunosuppressants in patients with contraindications or resistance to steroid and azathioprine therapy. Furthermore, almost 50% of the patients can be weaned from IA with then substantial lower need of further immunosuppressive therapy.