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Objective The aim of the study was to examine the sense of smell in LRRK2 mutation carriers and in patients with sporadic PD (sPD). Materials and Methods A total of 343 individuals were included: 275 sPD of whom 90 were de novo patients with sPD, 17 LRRK2 PD, 36 healthy LRRK2 mutation carriers, and 15 healthy family members without mutation. All subjects underwent neurologic examination and olfactory sense testing with B-SIT (a 12–item test). Linear regression analysis was applied to build different models with B-SIT as dependent variable. Results Sporadic PD had significantly lower scores in olfaction compared with LRRK2 PD (P

Johansen KK, Jorgensen JV, White LR, Farrer MJ, Aasly JO. Parkinson-related genetics in patients treated with deep brain stimulation. Acta Neurol Scand: 2011: 123: 201–206. © 2010 John Wiley & Sons A/S. Objectives – To analyze the frequency of mutations associated with Parkinson’s disease (PD) in a general PD population compared to patients with PD selected for deep brain stimulation (DBS) and evaluate the outcome of surgery. Material and methods – A total of 630 consecutive patients with PD were genetically screened, and 60 had DBS surgery, 37 subthalamic nucleus (STN), 21 ventrointermediate nucleus of thalamus (VIM), and two globus pallidus internus (GPi). Results – Mutations in LRRK2, PRKN, and PINK1 were found: the first two of these being overrepresented in STN-operated patients, but none being found in VIM-operated patients. Clinical outcome of the surgery was similar in patients with mutations compared to those without. Conclusions – In a consecutive PD population, patients treated with STN-DBS are overrepresented for PD-related mutations and they seem to benefit from DBS as well as patients without mutations.

Bilateral intracarotidal Amytal (amobarbital) tests for evaluation of speech and memory function were performed during preoperative evaluation of 30 patients with drug-resistant epilepsy. In 8 of these patients (16 tests), having partial complex epilepsy, EEG was recorded with depth electrodes, implanted bilaterally in anterior mesial temporal structures. The EEGs during 13 tests could be quantified with regard to spike activity. A rapid increase in spike frequency was observed ipsilateral to the injection in all tests but one. No seizure activity or clinical seizures were provoked. This previously unnoticed effect of amobarbital could be due to a direct excitatory effect of the drug on epileptic temporal neurones or, alternatively, to a release of interictal inhibition, exerted upon these neurons by other structures. In 4 patients, the effect was compared with that of methohexital, another barbiturate known to have excitatory effects upon epileptic activity.

Objectives - Mutations in the LRRK2 gene have been associated with both familial and sporadic late-onset Parkinson's disease. A large number of mutations in this gene have been identified; however, for many of these variants, the pathogenicity and relative frequency are unknown. Herein, we investigate the frequency of a number of recently identified LRRK2 mutations in Norway. Methods - We genotyped eight putatively pathogenic LRRK2 mutations (R793M, R1067Q, I1371V, IVS31 + 3 A > G, M1869T, R1941H, T2356I and G2385R) in a series of 433 patients with Parkinson's disease and 587 controls from Norway. An intronic polymorphism previously reported to be associated with disease susceptibility was also examined (rs10506151). Results - The Lrrk2 R793M substitution was found in two healthy individuals. No other LRRK2 mutations were identified in the Norwegian population, and furthermore no association was observed between rsl0506151 and Parkinson's disease (P = 0.41). Conclusions -LRRK2 mutations other than the Lrrk2 G2019S mutation are rare in Norway. Our results indicate that the Lrrk2 R793M substitution is most likely a rare polymorphism.

To analyze the frequency of mutations associated with Parkinson's disease (PD) in a general PD population compared to patients with PD selected for deep brain stimulation (DBS) and evaluate the outcome of surgery.A total of 630 consecutive patients with PD were genetically screened, and 60 had DBS surgery, 37 subthalamic nucleus (STN), 21 ventrointermediate nucleus of thalamus (VIM), and two globus pallidus internus (GPi).Mutations in LRRK2, PRKN, and PINK1 were found: the first two of these being overrepresented in STN-operated patients, but none being found in VIM-operated patients. Clinical outcome of the surgery was similar in patients with mutations compared to those without.In a consecutive PD population, patients treated with STN-DBS are overrepresented for PD-related mutations and they seem to benefit from DBS as well as patients without mutations.

Objectives – Previous studies have found associations between Parkinson’s disease (PD) and polymorphisms located within both the alpha-synuclein gene (SNCA) promoter and other gene regions. Our aim was to study SNCA gene markers in a closely matched Norwegian PD population to examine the genetic relationship between different polymorphisms associated with the disease. Methods – We genotyped seven single nucleotide polymorphisms (SNPs) located in the SNCA promoter and two SNPs in the 3′ gene region and seven microsatellite markers located across the gene in a closely matched series of 236 PD patients and 236 controls. Linkage disequilibrium (LD) structure was examined, and association of single markers and gene haplotypes analyzed. Results – Several markers located across the SNCA gene were associated with PD, including marker alleles associated with disease in previous studies (Rep1 263-bp allele, rs356165 and rs356219). Conclusion – LD between associated marker alleles located across the SNCA gene suggests that a single genetic effect might explain the previous reported association in the promoter and 3′ regions.

Neuroacanthocytosis is a progressive multisystem disease with a wide range of symptoms. The involuntary movements mainly include chorea and orofaciolingual dyskinesias. The descriptive name of the disease refers to the presence of abnormal erythrocytes in peripheral blood. Two siblings are presented. One young female had dystonia, self-mutilating behaviour, lip biting and eating difficulties. Her brother had repeated generalized epileptic seizures several years before developing choreatic movements and neuropsychiatric symptoms. Both had clinical signs of sensorimotor axonal polyneuropathy. Fresh blood smears in each patient contained between 15 and 20% acanthocytes compared to less than 2% in normal controls. Neuroacanthocytosis must be kept in mind in young adult patients without heredity for Huntington's disease and the diagnosis is easily confirmed when making a fresh blood smear.

Twenty-three drug abusers and seventeen controls underwent clinical neurological examinations and magnetic resonance imaging (MRI) of the brain. The drug abuse encompassed cannabis, inhalants, opiates, psychedelics, amphetamines, and cocaine but not necessarily all drugs in all persons. The drug abuse was always combined with heavy alcohol consumption. One drug abuser had abnormal neurological findings which consisted of lower limb ataxia and 3 others had mild imbalance. MRI examinations did not show differences in width of the third, fourth or lateral ventricles nor the diameter of the cerebral aqueduct but the drug abusers had significantly smaller vermes cerebelli compared to controls. White matter changes also occurred more often in the drug abuser group. These findings are not consistent with known side-effects of the narcotic drugs but more probably a result of very high alcohol consumptions in parallel with drug abuse. Alcohol is clearly a much more potent brain toxic agent than are the most commonly abused narcotic drugs.

Electrophysiological studies were performed in 7 patients with Marinesco-Sjogren syndrome in order to search for neuromuscular involvement in this multiorgan disorder. In 6 patients muscle biopsies were also obtained. Light microscopic examinations of the biopsies showed extensive myopathic changes, and in two patients ragged red fibers were found. Electron microscopy showed subsarcolemmal accumulation of abnormal mitochondria in all. Concentric needle EMG revealed unequivocal myopathic changes, more extensive in the anterior tibial than in the biceps brachii muscle. Motor and sensory conduction velocities in the peripheral nerves were normal. There were remarkably high amplitudes of sensory responses. Macro EMG studies in the biceps brachii muscle in four patients showed increased amplitude and area of the macro MUPs. This may be due to abnormal membrane function. Both electrophysiological and morphological findings confirm myopathic features of Marinesco-Sjogren syndrome.