Genomes and Genes
Affiliation: Lund University
- Monogenic Parkinson's disease and parkinsonism: clinical phenotypes and frequencies of known mutationsAndreas Puschmann
Dept for Neurology, Lund University and Skåne University Hospital, Getingevagen 4, 22185 Lund, Sweden
Parkinsonism Relat Disord 19:407-15. 2013..Clinical genetic testing is useful for selected patients. Testing strategies need to be adapted individually based on clinical phenotype and estimated frequency of the mutation in the patient's population...
- First neuropathological description of a patient with Parkinson's disease and LRRK2 p.N1437H mutationAndreas Puschmann
Department of Clinical Science, Section of Geriatric Psychiatry, Lund University, Sweden
Parkinsonism Relat Disord 18:332-8. 2012..The distribution and shape of ubiquitin-positive lesions in this patient differed from the few previously described patients with LRRK2 mutations and ubiquitin pathology, and the ubiquitinated protein substrate remains undefined...
- Alpha-synuclein multiplications with parkinsonism, dementia or progressive myoclonus?Andreas Puschmann
Department of Neurology, Lund University Hospital, Sweden
Parkinsonism Relat Disord 15:390-2. 2009..This hypothesis is supported by the distribution of afflicted family members within the pedigree and by recently obtained genealogical information...
- A Swedish family with de novo alpha-synuclein A53T mutation: evidence for early cortical dysfunctionAndreas Puschmann
Department of Neurology, Lund University Hospital, Sweden Department of Clinical Science, Section of Geriatric Psychiatry, Lund University, Sweden
Parkinsonism Relat Disord 15:627-32. 2009..209A mutation, strongly suggesting its de novo occurrence within this family. Furthermore, a novel mutation c.488G > A (p.Arg163His; R163H) in the presenilin-2 (PSEN2) gene was detected, but was not associated with disease state...
- Diagnosis and treatment of common forms of tremorAndreas Puschmann
Department of Neurology, Mayo Clinic, Jacksonville, Florida, USA
Semin Neurol 31:65-77. 2011..An individualized approach to treatment of tremor patients is important, taking into account the degree of disability, including social embarrassment, which the tremor causes in the patient's life...
- Synucleinopathies from bench to bedsideAndreas Puschmann
Department for Geriatric Psychiatry, Lund University, Sweden
Parkinsonism Relat Disord 18:S24-7. 2012..When such treatments become available, clinicians will need to be familiar with the clinical features that distinguish the synucleinopathies from their look-alikes...
- Population-specific frequencies for LRRK2 susceptibility variants in the Genetic Epidemiology of Parkinson's Disease (GEO-PD) ConsortiumMichael G Heckman
Biostatistics Unit, Mayo Clinic, Jacksonville, Florida, USA
Mov Disord 28:1740-4. 2013..Leucine-rich repeat kinase 2 variation related to disease susceptibility displays many features that reflect the nature of complex, late-onset sporadic disorders like Parkinson's disease...
- Genotype-phenotype correlations in THAP1 dystonia: molecular foundations and description of new casesMark S Ledoux
Department of Neurology, University of Tennessee Health Science Center, 855 Monroe Avenue, Link Building Suite 415, Memphis, TN 38163, USA
Parkinsonism Relat Disord 18:414-25. 2012..Protein truncating mutations and missense mutations within the THAP domain of THAP1 tend to manifest at an earlier age and exhibit more extensive anatomical distributions than mutations localized to other regions of THAP1...
- Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control studyOwen A Ross
Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA
Lancet Neurol 10:898-908. 2011..We therefore assessed the frequency of LRRK2 exonic variants in individuals with and without PD, to investigate the role of the variants in PD susceptibility...
- Role of Gα(olf) in familial and sporadic adult-onset primary dystoniaSatya R Vemula
Department of Neurology, University of Tennessee Health Science Center, Memphis, TN 38163, USA
Hum Mol Genet 22:2510-9. 2013....
- Mitochondrial targeting sequence variants of the CHCHD2 gene are a risk for Lewy body disordersKotaro Ogaki
From the Department of Neuroscience K O, S K, F C F, M A, C L, O L B, E L M L, A I S O, R L W, W S, D W D, O A R, the Division of Biomedical Statistics and Informatics M G H, and the Department of Neurology A J S, R J U, N R G R, Z K W, Mayo Clinic, Jacksonville, FL the Department of Neurology K O, M A, K N, M F, N H, Juntendo University School of Medicine, Tokyo, Japan the Dublin Neurological Institute at the Mater Misericordiae University Hospital A M, T L, Conway, and Institute of Biomolecular and Biomedical Research, University College Dublin, Ireland the Department of Neurology J S, G O, Str. Prov. per Casamassima Km3
Neurology 85:2016-25. 2015..To assess the role of CHCHD2 variants in patients with Parkinson disease (PD) and Lewy body disease (LBD) in Caucasian populations...
- Novel PRRT2 mutation in an African-American family with paroxysmal kinesigenic dyskinesiaPeter Hedera
Department of Neurology, Vanderbilt University, Nashville, TN, USA
BMC Neurol 12:93. 2012..2) have been identified in Han Chinese, Japanese and Caucasians with paroxysmal kinesigenic dyskinesia. In previous work, a paroxysmal kinesigenic dyskinesia locus was mapped to Chr 16p11.2 - q11.2 in a multiplex African-American family...
- An African-American family with dystoniaAndreas Puschmann
Department of Neurology, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL 32224, USA
Parkinsonism Relat Disord 17:547-50. 2011..Therefore, genetic testing for dystonia and future studies of candidate genes must take genetic background into consideration...
- LRRK2 variation and Parkinson's disease in African AmericansOwen A Ross
Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida 32224, USA
Mov Disord 25:1973-6. 2010..Given the ethnic-specific LRRK2 variation previously identified in PD further studies in under-represented populations are warranted...
- Autosomal dominant Parkinson's disease caused by SNCA duplicationsTakuya Konno
Department of Neurology, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL 32224, USA
Parkinsonism Relat Disord 22:S1-6. 2016..Neuronal loss in the hippocampal cornu ammonis 2/3 regions were seen in about half of the autopsied SNCA duplication cases. Similar pathology was also observed in SNCA missense mutation and triplication carriers. ..
- Human leukocyte antigen variation and Parkinson's diseaseAndreas Puschmann
Division of Neurogenetics, Department of Neuroscience, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL, USA
Parkinsonism Relat Disord 17:376-8. 2011..008), Polish (OR: 0.67, P = 0.040) and combined (OR: 0.75, P = 0.006) patient-control series. In view of these diverging results, the exact role of genetic variation at the HLA region and susceptibility to PD remains to be resolved...
- Role for the microtubule-associated protein tau variant p.A152T in risk of α-synucleinopathiesCatherine Labbe
From the Departments of Neuroscience C L, K O, O L B, A I S O, R L W, S R, M E M, P J M, R R, N E T, D W D, O A R, Neurology S F, N E T, N R G R, R J U, Z K W, and Psychiatry and Psychology T J F, Division of Biomedical Statistics and Informatics M G H, and Mayo Graduate School P J M, O A R, Mayo Clinic, Jacksonville, FL Dublin Neurological Institute at the Mater Misericordiae University Hospital A M, T L, Conway Institute of Biomolecular and Biomedical Research A M, T L, University College Dublin, Ireland Department of Clinical Sciences A P, Lund University, and Department of Neurology, Skane University Hospital, Sweden Department of Neurology J S, Paris
Neurology 85:1680-6. 2015..To assess the importance of MAPT variant p.A152T in the risk of synucleinopathies...
- 18F-AV-1451 tau PET imaging correlates strongly with tau neuropathology in MAPT mutation carriersRuben Smith
1 Department of Clinical Sciences Lund, Department of Neurology, Lund University, Sweden 2 Department of Neurology and Rehabilitation Medicine, Skane University Hospital, Lund, Sweden
Brain 139:2372-9. 2016..This provides strong evidence that (18)F-AV-1451 positron emission tomography can be used to accurately quantify in vivo the regional distribution of hyperphosphorylated tau protein. ..
- Clinically meaningful parameters of progression and long-term outcome of Parkinson disease: An international consensus statementAndreas Puschmann
Department of Neurology, Skane University Hospital, Lund, Sweden Lund University, Department of Clinical Sciences, Lund, Neurology, Sweden
Parkinsonism Relat Disord 21:675-82. 2015..Research into the progression and long-term outcomes of PD aims at providing individual prognostic information early, adapting treatment choices, and taking specific measures to provide care optimized to the individual patient's needs. ..