Genomes and Genes
Affiliation: University of Munich
- Genetics of Parkinson's diseaseT Gasser
Department of Neurology, Ludwig Maximilians Universitat, Munich, Germany
J Neurol 248:833-40. 2001..Nevertheless, the elucidation of the molecular sequence of events leading to nigral degeneration in clearly inherited cases is likely to shed light also on the molecular pathogenesis of the common sporadic form of this disorder...
- A susceptibility locus for Parkinson's disease maps to chromosome 2p13T Gasser
Neurologische Klinik, Klinikum Grosshadern, Ludwig Maximilians Universitat, Munchen, Germany
Nat Genet 18:262-5. 1998..The penetrance of the mutation appears to be low, most likely below 40%. This is compatible with a possible role of this locus not only in familial, but also in typical (sporadic) PD...
- Inherited Myoclonus-dystonia syndrome: narrowing the 7q21-q31 locus in German familiesF Asmus
Neurologische Klinik, Klinikum Grosshadern, , , Germany
Ann Neurol 49:121-4. 2001..99. The observation of key recombinations in one family refined the disease locus to a 7.2 cM region flanked by the markers D7S652 and D7S2480...
- Polymorphisms in the receptor for GDNF (RET) are not associated with Parkinson's disease in Southern GermanyC B Lücking
Department of Neurology, Ludwig Maximilians University, Marchioninistr 15, 81377 Munchen, Germany
Neurobiol Aging 31:167-8. 2010....
- Candidate gene studies in focal dystoniaD Sibbing
Department of Neurology, Philipps University, Marburg, Germany
Neurology 61:1097-101. 2003..Mutations in the DYT1 gene can cause focal dystonia, and an association with a polymorphism in the D5 receptor gene (DRD5) has been reported but not confirmed...
- Small in-frame deletions and missense mutations in CADASIL: 3D models predict misfolding of Notch3 EGF-like repeat domainsM Dichgans
Department of Neurology, Klinikum Grosshadern, Ludwig Maximilians University, Munich, Germany
Eur J Hum Genet 8:280-5. 2000..To study the potential effects of these mutations 3D homology models of the first six EGF domains were generated on the basis of NMR data from human fibrillin-1. These models predict domain misfolding for a subset of mutations...
- Striatal dopamine transporter binding assessed by [I-123]IPT and single photon emission computed tomography in patients with early Parkinson's disease: implications for a preclinical diagnosisJ Schwarz
Department of Neurology, University of Ulm, Germany
Arch Neurol 57:205-8. 2000..Specific binding to dopamine transporters may serve as a tool to detect early loss of nigrostriatal dopaminergic neurons in patients with Parkinson's disease...
- Liposome-mediated gene transfer to fetal human ventral mesencephalic explant culturesM Bauer
Department of Neurology, Klinikum Grobetahadern, University of Munich, Marchioninistrabetae 15, 81366, Munich, Germany
Neurosci Lett 308:169-72. 2001..This finding might have implications for gene delivery and cell replacement strategies in Parkinson's disease...
- Clinical characteristics and frequency of the hereditary restless legs syndrome in a population of 300 patientsJ Winkelmann
Max Planck Institute of Psychiatry, Section of Neurology, Munich, Germany
Sleep 23:597-602. 2000..1% vs. 2.6%, p < 0.05). Our study shows that patients with hereditary RLS may experience an earlier onset of the disease. Hereditary and non-hereditary RLS present with similiar clinical signs and symptoms...
- Reduced cerebrovascular CO(2) reactivity in CADASIL: A transcranial Doppler sonography studyT Pfefferkorn
Department of Neurology, Klinikum Grosshadern,
Stroke 32:17-21. 2001..The reduction of CO(2) reactivity in nondisabled CADASIL individuals suggests an early role of impaired cerebral vasoreactivity in the evolution of the disease...
- Markedly different course of Friedreich's ataxia in sib pairs with similar GAA repeat expansions in the frataxin geneT Klopstock
Department of Neurology, Klinikum Grosshadern, University of Munich, Germany
Acta Neuropathol 97:139-42. 1999..In view of these results, genetic counseling and predictions on the course of FA are particularly difficult, even if an expansion mutation is found...
- Creatine supplementation in Parkinson disease: a placebo-controlled randomized pilot trialA Bender
Department of Neurology, Klinikum Grosshadern, Klinikum Grosshadern, University of Munich, Germany
Neurology 67:1262-4. 2006..Cr improved patient mood and led to a smaller dose increase of dopaminergic therapy but had no effect on overall Unified Parkinson's Disease Rating Scale scores or dopamine transporter SPECT...
- Service-based survey of dystonia in munichE Castelon Konkiewitz
Department of Neurology, Klinikum rechts der Isar, Technische Universitat Munchen, Germany
Neuroepidemiology 21:202-6. 2002..The most common focal primary dystonias were cervical dystonia with 5.4 (4.2-6.7) and essential blepharospasm with 3.1 (2.1-4.1) per 100,000 followed by laryngeal dystonia (spasmodic dysphonia) with 1.0 (0.4-1.5) per 100,000...
- Copper genes are not implicated in the pathogenesis of focal dystoniaO Bandmann
Department of Neurology, Philipps University Marburg, Germany
Neurology 59:782-3. 2002
- A placebo-controlled crossover trial of creatine in mitochondrial diseasesT Klopstock
Department of Neurology, Ludwig Maximilians Universitat Munchen, Germany
Neurology 55:1748-51. 2000..Cr was well tolerated, but there were no significant effects with regard to exercise performance, eye movements, or activities of daily life. The power of this pilot study was limited and future multicenter trials are needed...
- Autosomal-dominant Parkinson's disease linked to 2p13 is not caused by mutations in transforming growth factor alpha (TGF alpha) (short communication)M Zink
Neurologische Klinik, Klinikum Grosshadern, , Federal Republic of Germany
J Neural Transm 108:1029-34. 2001..This result excludes mutations in the coding region of TGF alpha as a cause for hereditary PD, but does not rule out a possible role of sequence variants in regulatory regions or splice sites...
- A case of amyotrophic lateral sclerosis with a very slow progression over 44 yearsK Grohme
Department of Neurology, Klinikum Erfurt, , D-99089, Erfurt, Germany
Neuromuscul Disord 11:414-6. 2001..Informing ALS patients of the existence of documented cases with long-term survival can be a means of fostering hope when delivering the diagnosis...
- Cervical dystonia in monozygotic twins: case report and review of the literatureS Wunderlich
Department of Neurology, , , Germany
Mov Disord 16:714-8. 2001..These observations underline the role of inheritance in the pathogenesis of idiopathic dystonia but also indicate that some other factors contribute to the clinical presentation of dystonia...
- Parkin modulates gene expression in control and ceramide-treated PC12 cellsP G Unschuld
Klinik fur Neurologie, Ludwig Maximilians Universitat, Marchioninistr 15, 81377, Munchen, Germany
Mol Biol Rep 33:13-32. 2006..These results suggest that, in this assay, the cytoprotective effect of parkin might result not only from its E3-ligase activity, but also from direct or indirect modulation of gene expression in a time-dependent manner...
- GAG deletion in the DYT1 gene in early limb-onset idiopathic torsion dystonia in GermanyC Kamm
Department of Neurology, Klinikum Grosshadern, Ludwig Maximilians Universitat, Munchen, Germany
Mov Disord 14:681-3. 1999..This suggests that the GAG deletion is responsible for a major portion of cases of typical early limb-onset dystonia, but not for other types of dystonia, in our population...
- Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndromeA Zimprich
Department of Neurology, Klinikum Grobhadern, Ludwig Maximilians University, Munich, Germany
Nat Genet 29:66-9. 2001..Pedigree analysis shows a marked difference in penetrance depending on the parental origin of the disease allele. This is indicative of a maternal imprinting mechanism, which has been demonstrated in the mouse epsilon-sarcoglycan gene...
- Glial cell line-derived neurotrophic factor up-regulates GTP-cyclohydrolase I activity and tetrahydrobiopterin levels in primary dopaminergic neuronesM Bauer
Department of Neurology, Klinikum Grosshadern, LMU Munchen, Germany
J Neurochem 82:1300-10. 2002..We conclude that GDNF, in addition to its action in structural differentiation, also promotes differentiation regarding expression and enzymatic activity of a crucial component in the dopaminergic biosynthetic pathway...
- NOTCH3 mutation involving three cysteine residues in a family with typical CADASILM Dichgans
Department of Neurology, Klinikum Grosshadern, Ludwig Maximilians Universitat, Munich, Germany
Neurology 57:1714-7. 2001..These data are consistent with the hypothesis that the change toward an odd number of cysteine residues within a given EGF repeat and therefore an unpaired, reactive cysteine residue is the common and critical molecular event in CADASIL...
- Quantitative MRI in CADASIL: correlation with disability and cognitive performanceM Dichgans
Department of Neurology, Klinikum Grosshadern, Ludwig Maximilians University, Munich, Germany
Neurology 52:1361-7. 1999....
- A novel SOD1 mutation in an Austrian family with amyotrophic lateral sclerosisB Bereznai
Department of Neurology, Klinikum Grosshadern, Munich, Germany
Neuromuscul Disord 7:113-6. 1997..The mutation lies in a region involved in dimer contact in the three-dimensional structure of the SOD1 protein. This region comprises other known sites for ALS-causing mutations...
- Pramipexole in patients with Parkinson's disease and marked drug resistant tremor: a randomised, double blind, placebo controlled multicentre studyO Pogarell
Department of Neurology, Philipps University of Marburg, Marburg, Germany
J Neurol Neurosurg Psychiatry 72:713-20. 2002..To compare the tremorlytic properties of pramipexole, a non-ergoline dopamine agonist to those of placebo as add on medication in patients with Parkinson's disease...
- Tauopathies with parkinsonism: clinical spectrum, neuropathologic basis, biological markers, and treatment optionsA C Ludolph
Department of Neurology, University of Ulm, Ulm, Germany
Eur J Neurol 16:297-309. 2009....
- Parkin is transcriptionally regulated by ATF4: evidence for an interconnection between mitochondrial stress and ER stressL Bouman
Adolf Butenandt Institute, Neurobiochemistry, Ludwig Maximilians University, Schillerstrasse 44, Munich, Germany
Cell Death Differ 18:769-82. 2011....
- The gene coding for glial cell line derived neurotrophic factor (GDNF) maps to chromosome 5p12-p13.1D Schindelhauer
Abteilung für pädiatrische Genetik, Kinderpoliklinik, Ludwig Maximilians Universitat, Munich, Germany
Genomics 28:605-7. 1995
- Molecular genetics of Parkinson's diseaseT Gasser
Neurologische Klinik und Poliklinik, Klinikum Grosshadern, , Germany
Adv Neurol 86:23-32. 2001..However, the elucidation of the molecular sequence of events leading to nigral degeneration in these inherited cases is likely also to shed light on the molecular pathogenesis of the common sporadic disorder...
- A novel TITF-1 mutation causes benign hereditary chorea with response to levodopaF Asmus
Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, Tuebingen, Germany
Neurology 64:1952-4. 2005..Surprisingly, treatment with levodopa improved gait dramatically and reduced chorea in two patients. Dopaminergic drugs should be considered a useful therapeutic option in BHC...
- The fragile X tremor ataxia syndrome in the differential diagnosis of multiple system atrophy: data from the EMSA Study GroupC Kamm
Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, Hoppe Seyler Strasse 3, University of Tubingen, 72086 Tübingen, Germany
Brain 128:1855-60. 2005..On the basis of our data, the EMSA Study Group does not recommend routine FMR1 genotyping in typical MSA patients...
- Comparison of alpha-dihydroergocryptine and levodopa monotherapy in Parkinson's disease: assessment of changes in DAT binding with [123I]IPT SPECTG Popperl
Department of Nuclear Medicine, University of Munich, Germany
J Neural Transm 111:1041-52. 2004..The results of this pilot study suggest that as compared to levodopa monotherapy DEC may have beneficial effects on decline of dopamine transporter binding similar to those recently described for pramipexole...
- Familial dopa-responsive cervical dystoniaS A Schneider
Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, UCL, London, UK
Neurology 66:599-601. 2006..These cases may represent new forms of dopa-responsive dystonia. Levodopa is advisable in all patients with young-onset cervical dystonia...
- L -dopa-induced adverse effects in PD and dopamine transporter gene polymorphismR Kaiser
Institute of Clinical Pharmacology, Charite, Humboldt Universitat zu Berlin, Germany
Neurology 60:1750-5. 2003..To assess whether polymorphisms in the dopamine receptor genes and in the dopamine transporter gene (DAT ) are predictors of adverse effects of L -dopa...
- [Intermittent apomorphine injections as rescue therapy for advanced Parkinson's disease. Consensus statement]C Trenkwalder
Zentrum für Parkinson Syndrome und Bewegungsstörungen, Paracelsus Elena Klinik, Klinikstrasse 16, 34128, Kassel, Deutschland
Nervenarzt 79:475-9. 2008..In the present consensus statement, concepts for the use of apomorphine are presented and discussed based on existing study results, indications, and contraindications. Recommendations for a practical approach are also provided...
- Correlations between clinical findings and magnetization transfer imaging metrics of tissue damage in individuals with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathyG Iannucci
Neuroimaging Research Unit, Department of Neuroscience, Scientific Institute Ospedale San Raffaele, Milan, Italy
Stroke 32:643-8. 2001..Brain tissue outside PD abnormalities is also damaged. This study suggests that the extent and the severity of the brain tissue damage are critical factors in determining clinical status in CADASIL...
- A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe. French Parkinson's Disease Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson's DiseaseN Abbas
INSERM U289, Hopital de la Salpetriere, 47 Boulevard de l Hopital, 75651 Paris Cedex 13, France
Hum Mol Genet 8:567-74. 1999....
- Refinement of the PARK3 locus on chromosome 2p13 and the analysis of 14 candidate genesA B West
Mayo Clinic Jacksonville, 4500 San Pablo Road, Jacksonville, Florida, FL 32224, USA
Eur J Hum Genet 9:659-66. 2001..5 Mb. Analysis of 14 genes within the region did not reveal any potentially pathogenic mutations segregating with the disease, implying that none of these genes are likely candidates for PARK3...
- Lrrk2 R1441C parkinsonism is clinically similar to sporadic Parkinson diseaseK Haugarvoll
Department of Neurology, Mayo Clinic College of Medicine, Jacksonville, FL 32224, USA
Neurology 70:1456-60. 2008..Several dominantly inherited pathogenic substitutions have been identified in different domains of the Lrrk2 protein. Herein, we characterize the clinical and genetic features associated with Lrrk2 p.R1441C...
- Comprehensive association analysis of the NOS2A gene with Parkinson diseaseC Schulte
Hertie Institute for Clinical Brain Research, Section for Neurodegenerative Diseases, University of Tubingen, Hoppe Seyler Str 3, 72076 Tubingen, Germany
Neurology 67:2080-2. 2006..A replication study of 340 German patients and 680 controls showed no significant association between 12 genotyped polymorphisms and PD. NOS2A is therefore not a major susceptibility locus in our relatively young sample population...
- Polymorphisms in the proteasomal subunit alpha4 are not associated with Parkinson's diseaseC B Lücking
J Neurol 255:441-2. 2008
- Strong genetic evidence for association of TOR1A/TOR1B with idiopathic dystoniaC Kamm
Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tuebingen, Hoppe Seyler Str 3, 72086 Tuebingen, Germany
Neurology 67:1857-9. 2006..000008, in a larger cohort of German and Austrian patients with predominantly focal sporadic dystonia...
- Long-term EMG recordings differentiate between parkinsonian and essential tremorS Breit
Center of Neurology and Hertie Institute for Clinical Brain Research, Depatment of Neurodegeneration, University of Tubingen, Hoppe Seyler Str 3, 72076 Tubingen, Germany
J Neurol 255:103-11. 2008..We conclude that long-term EMG recording allows a rater-independent classification of parkinsonian versus essential tremor...
- The ubiquitin pathway in Parkinson's diseaseE Leroy
Nature 395:451-2. 1998
- RLS3: fine-mapping of an autosomal dominant locus in a family with intrafamilial heterogeneityK M Liebetanz
Department of Clinical Neurophysiology, Georg August University, Goettingen, Germany
Neurology 67:320-1. 2006..P values were 0.0054 for marker D9S1810 for TDT and 0.0009 for the affecteds-only linkage analysis, providing a confirmation of RLS3. This study narrows the region containing the autosomal dominant RLS3 locus to 11.1 cM (16.6 Mbp)...
- Possible gender-dependent association of vascular endothelial growth factor (VEGF) gene and ALSR Fernández-Santiago
Department of Neurodegenerative Diseases, Hertie Institute for Brain Research, Eberhard Karls University, Tuebingen, Germany
Neurology 66:1929-31. 2006..However, the promoter SNP-1154 (rs1570360) was associated with affection status in women (p = 0.036), suggesting that the VEGF effect may be dependent on the sex ratio of the sample...
- The Ile93Met mutation in the ubiquitin carboxy-terminal-hydrolase-L1 gene is not observed in European cases with familial Parkinson's diseaseB S Harhangi
Department of Epidemiology and Biostatistics, Erasmus University Medical School, Rotterdam, The Netherlands
Neurosci Lett 270:1-4. 1999..We conclude that the UCH-L1 gene is not a major gene responsible for familial PD...
- Association of an interleukin 1 alpha polymorphism with Alzheimer's diseaseY Du
Departments of Pharmacology and Toxicology, Indiana University School of Medicine, Indianapolis, 46202, USA
Neurology 55:480-3. 2000..The IL-1A(-889) allele 2 polymorphism may be associated with AD pathogenesis...
- The sepiapterin reductase gene region reveals association in the PARK3 locus: analysis of familial and sporadic Parkinson's disease in European populationsM Sharma
Hertie Institute for Clinical Brain Research, Department for Neurodegenerative Diseases, University of Tubingen, Hoppe Seyler Str 3, 72076 Tubingen, Germany
J Med Genet 43:557-62. 2006..Recently, a haplotype across the sepiapterin reductase (SPR) gene, which is located in the PARK3 linkage region, was shown to modulate age of onset of Parkinson's disease in sibships from North America...
- [A comparison of cholinesterase inhibitors and ginkgo extract in treatment of Alzheimer dementia]U Schreiter Gasser
Gerontopsychiatrisches Zentrum Hegibach,
Fortschr Med Orig 119:135-8. 2001..CONCLUSION: Until the results of direct comparative studies are available, the present results indicate a superior effect of cholinesterase inhibitors over the ginkgo extract in the treatment of mild to moderate Alzheimer's disease...
- Neuropathology of two members of a German-American kindred (Family C) with late onset parkinsonismZ K Wszolek
Mayo Clinic Jacksonville, Department of Neurology, Jacksonville, Florida 32224, USA
Acta Neuropathol 103:344-50. 2002..Thus, the clinical and pathological findings in this family with autosomal dominant parkinsonism are similar to those of sporadic Parkinson's disease...
- Novel mutation in the TOR1A (DYT1) gene in atypical early onset dystonia and polymorphisms in dystonia and early onset parkinsonismJ C Leung
Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston 02114, USA
Neurogenetics 3:133-43. 2001..This 18-bp deletion is the first additional mutation, beyond the GAG-deletion (Glu302/303del), to be found in the TOR1A gene, and is associated with a distinct type of early onset dystonia...
- The parkin gene and its phenotype. Italian PD Genetics Study Group, French PD Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson's DiseaseV Bonifati
Department of Neurological Sciences, La Sapienza University, Rome, Italy
Neurol Sci 22:51-2. 2001..Despite clinical features, Lewy bodies are not found at autopsy in brains of patients with parkin mutations. The parkin protein possesses ubiquitin ligase activity, which is abolished by the pathogenic mutations...
- PARK6 is a common cause of familial parkinsonismE M Valente
C S S Mendel Institute, Viale Regina Margherita 261, I 00198 Rome, Italy
Neurol Sci 23:S117-8. 2002..The determination of the smallest region of homozygosity in one consanguineous family allowed reducing the candidate interval to 9 cM. PARK6 appears to be an important locus for ARJP in Europe...
- Origin of the mutations in the parkin gene in Europe: exon rearrangements are independent recurrent events, whereas point mutations may result from Founder effectsM Periquet
INSERM U289, Hopital de la Salpetriere, 75651 Paris, Cedex 13, France
Am J Hum Genet 68:617-26. 2001..Our results support the hypothesis that exon rearrangements occurred independently, whereas some point mutations, found in families from different geographic origins, may have been transmitted by a common founder...
- Autosomal dominant parkinsonism associated with variable synuclein and tau pathologyZ K Wszolek
Department of Neurology, Mayo Clinic, Jacksonville, FL 32224, USA
Neurology 62:1619-22. 2004..Genetic studies suggested linkage to the PARK8 locus on chromosome 12...
- Variability of familial hemiplegic migraine with novel A1A2 Na+/K+-ATPase variantsK Jurkat-Rott
Department of Applied Physiology, Ulm University, Germany
Neurology 62:1857-61. 2004..D718N and P979L may predispose to seizures and mental retardation. A1A2 does not play a major role in sporadic HM; only one variant, R383H, occurred in 1 of 24 cases...
- Genome-wide scan linkage analysis for Parkinson's disease: the European genetic study of Parkinson's diseaseM Martinez
Unité de Recherche INSERM EMI00 06, Tour Evry 2, 523 Place des Terrasses de l Agora, Evry cedex 91068, France
J Med Genet 41:900-7. 2004..To undertake a full genome-wide screen for Parkinson's disease susceptibility loci...
- The role of alpha-synuclein gene multiplications in early-onset Parkinson's disease and dementia with Lewy bodiesA Hofer
Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tubingen, Germany
J Neural Transm 112:1249-54. 2005..A triplication of the alpha-synuclein gene was found to cause autosomal dominant Lewy body disease in two distinct families...
- Second primary tumor in anti-Ma1/2-positive paraneoplastic limbic encephalitisT Leyhe
Department of Psychiatry and Psychotherapy, University of Tubingen, Tubingen, Germany
J Neurooncol 78:49-51. 2006..Tumor search should be exhaustive and include PET when conventional imaging fails to show a malignancy...
- Phenotypic variation in a large Swedish pedigree due to SNCA duplication and triplicationJ Fuchs
Hertie Institute for Clinical Brain Research, Department of Neurodegenerative Diseases, Center for Neurology, University of Tubingen, Tubingen, Germany
Neurology 68:916-22. 2007..On the basis of clinical, molecular, and genealogic findings on a Swedish and an American family branch, we provide genetic evidence that explains the parkinsonism in this extended pedigree...