References of "Gasser, T"
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See detailAlpha-synuclein gene variants may predict neurostimulation outcome.
Weiss, D.; Herrmann, S.; Wang, Lin UL et al

in Movement disorders : official journal of the Movement Disorder Society (2016)

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See detailLarge-scale assessment of polyglutamine repeat expansions in Parkinson disease
Wang, L.; Aasly, J. O.; Annesi, G. et al

in Neurology (2015), 85(15), 1283-92

OBJECTIVES: We aim to clarify the pathogenic role of intermediate size repeat expansions of SCA2, SCA3, SCA6, and SCA17 as risk factors for idiopathic Parkinson disease (PD). METHODS: We invited ... [more ▼]

OBJECTIVES: We aim to clarify the pathogenic role of intermediate size repeat expansions of SCA2, SCA3, SCA6, and SCA17 as risk factors for idiopathic Parkinson disease (PD). METHODS: We invited researchers from the Genetic Epidemiology of Parkinson's Disease Consortium to participate in the study. There were 12,346 cases and 8,164 controls genotyped, for a total of 4 repeats within the SCA2, SCA3, SCA6, and SCA17 genes. Fixed- and random-effects models were used to estimate the summary risk estimates for the genes. We investigated between-study heterogeneity and heterogeneity between different ethnic populations. RESULTS: We did not observe any definite pathogenic repeat expansions for SCA2, SCA3, SCA6, and SCA17 genes in patients with idiopathic PD from Caucasian and Asian populations. Furthermore, overall analysis did not reveal any significant association between intermediate repeats and PD. The effect estimates (odds ratio) ranged from 0.93 to 1.01 in the overall cohort for the SCA2, SCA3, SCA6, and SCA17 loci. CONCLUSIONS: Our study did not support a major role for definite pathogenic repeat expansions in SCA2, SCA3, SCA6, and SCA17 genes for idiopathic PD. Thus, results of this large study do not support diagnostic screening of SCA2, SCA3, SCA6, and SCA17 gene repeats in the common idiopathic form of PD. Likewise, this largest multicentered study performed to date excludes the role of intermediate repeats of these genes as a risk factor for PD. [less ▲]

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See detailSlowly progressive Parkinson syndrome due to thalamic butterfly astrocytoma.
Wachter, T.; Engeholm, M.; Bisdas, S. et al

in Neurology (2011), 77(4), 404-5

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See detailRapid emergence of temporal and pulvinar lesions in MELAS mimicking Creutzfeldt-Jakob disease.
Weiss, D.; Brockmann, K.; Nagele, T. et al

in Neurology (2011), 77(9), 914

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See detailEffective long-term subthalamic stimulation in PARK8 positive Parkinson's disease.
Breit, Sorin; Wachter, T.; Schmid-Bielenberg, D. et al

in Journal of neurology (2010), 257(7), 1205-7

Whether patients with genetically defined Parkinson's disease (PD) may be particularly eligible to benefit from deep brain stimulation of the nucleus subthalamicus (STN-DBS) is currently the subject of ... [more ▼]

Whether patients with genetically defined Parkinson's disease (PD) may be particularly eligible to benefit from deep brain stimulation of the nucleus subthalamicus (STN-DBS) is currently the subject of debate. We report on a patient with advanced PD due to R793M missense mutation in the LRRK2 gene successfully treated by STN-DBS. Disease onset was at age 42 with bradykinesia, rigidity and rest tremor. During the course of the disease he developed severe motor fluctuations, dyskinesias, postural instability with falls, but preserved levodopa responsiveness. At age 60 the patient was treated by bilateral DBS of the STN. At one year after surgery a 66% improvement of the UPDRS motor score in the off-medication state was determined. During the long-term follow-up there was sustained benefit with 56% improvement of motor score after 8 years. Our report adds evidence that patients with LRRK2 monogenetic Parkinsonism are well suited candidates for DBS treatment and may indicate a potential genetic predictor for positive long-term effect of STN-DBS treatment. [less ▲]

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See detailEffective thalamic deep brain stimulation for neuropathic tremor in a patient with severe demyelinating neuropathy.
Breit, S.; Wachter, T.; Schols, L. et al

in Journal of neurology, neurosurgery, and psychiatry (2009), 80(2), 235-6

Postural and action tremor in peripheral neuropathy is characteristic of Roussy-Levy syndrome. A patient with a severe demyelinating neuropathy and disabling neuropathic tremor successfully treated by ... [more ▼]

Postural and action tremor in peripheral neuropathy is characteristic of Roussy-Levy syndrome. A patient with a severe demyelinating neuropathy and disabling neuropathic tremor successfully treated by deep brain stimulation (DBS) is reported. Disease onset was at age 63 years with sensory symptoms and slight action tremor. Within the following 9 years a severe, drug resistant, postural and action tremor developed rendering the patient unable to feed himself. At age 72 years the patient was treated by bilateral DBS of the ventral intermediate thalamic nucleus, with a useful 30% reduction in tremor. The clinical benefit of the stimulation remained stable over a 1 year postoperative observation period. [less ▲]

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See detailNovel ATP1A3 mutation in a sporadic RDP patient with minimal benefit from deep brain stimulation.
Kamm, C.; Fogel, W.; Wachter, T. et al

in Neurology (2008), 70(16 Pt 2), 1501-3

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See detailThe role of alpha-synuclein gene multiplications in early-onset Parkinson's disease and dementia with Lewy bodies.
Hofer, A.; Berg, D.; Asmus, F. et al

in Journal of neural transmission (Vienna, Austria : 1996) (2005), 112(9), 1249-54

BACKGROUND: A triplication of the alpha-synuclein gene was found to cause autosomal dominant Lewy body disease in two distinct families. METHOD: We searched for alterations of alpha-synuclein gene dosage ... [more ▼]

BACKGROUND: A triplication of the alpha-synuclein gene was found to cause autosomal dominant Lewy body disease in two distinct families. METHOD: We searched for alterations of alpha-synuclein gene dosage and analysed the entire coding region for point mutations in 54 dementia with Lewy body disease (DLB) and in 103 young onset Parkinson's disease (PD) patients from Central Europe. RESULTS: We could not detect any quantitative alterations in the gene dosage of alpha-synuclein. Mutational screening of the entire coding region of alpha-synuclein revealed only one silent mutation V3V (adenine9guanine) in one case. CONCLUSIONS: Thus, this phenomenon appears not to be a major cause in the pathogenesis of sporadic DLB and young onset PD in this European population. [less ▲]

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