Andreas Puschmann

Summary

Affiliation: Lund University
Country: Sweden

Publications

  1. doi Monogenic Parkinson's disease and parkinsonism: clinical phenotypes and frequencies of known mutations
    Andreas Puschmann
    Dept for Neurology, Lund University and Skåne University Hospital, Getingevagen 4, 22185 Lund, Sweden
    Parkinsonism Relat Disord 19:407-15. 2013
  2. pmc First neuropathological description of a patient with Parkinson's disease and LRRK2 p.N1437H mutation
    Andreas Puschmann
    Department of Clinical Science, Section of Geriatric Psychiatry, Lund University, Sweden
    Parkinsonism Relat Disord 18:332-8. 2012
  3. doi 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
  4. pmc A Swedish family with de novo alpha-synuclein A53T mutation: evidence for early cortical dysfunction
    Andreas 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
  5. pmc Diagnosis and treatment of common forms of tremor
    Andreas Puschmann
    Department of Neurology, Mayo Clinic, Jacksonville, Florida, USA
    Semin Neurol 31:65-77. 2011
  6. doi Synucleinopathies from bench to bedside
    Andreas Puschmann
    Department for Geriatric Psychiatry, Lund University, Sweden
    Parkinsonism Relat Disord 18:S24-7. 2012
  7. pmc Population-specific frequencies for LRRK2 susceptibility variants in the Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium
    Michael G Heckman
    Biostatistics Unit, Mayo Clinic, Jacksonville, Florida, USA
    Mov Disord 28:1740-4. 2013
  8. pmc Genotype-phenotype correlations in THAP1 dystonia: molecular foundations and description of new cases
    Mark 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
  9. pmc Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study
    Owen A Ross
    Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA
    Lancet Neurol 10:898-908. 2011
  10. pmc Role of Gα(olf) in familial and sporadic adult-onset primary dystonia
    Satya R Vemula
    Department of Neurology, University of Tennessee Health Science Center, Memphis, TN 38163, USA
    Hum Mol Genet 22:2510-9. 2013

Detail Information

Publications19

  1. doi Monogenic Parkinson's disease and parkinsonism: clinical phenotypes and frequencies of known mutations
    Andreas 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...
  2. pmc First neuropathological description of a patient with Parkinson's disease and LRRK2 p.N1437H mutation
    Andreas 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...
  3. doi 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...
  4. pmc A Swedish family with de novo alpha-synuclein A53T mutation: evidence for early cortical dysfunction
    Andreas 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...
  5. pmc Diagnosis and treatment of common forms of tremor
    Andreas 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...
  6. doi Synucleinopathies from bench to bedside
    Andreas 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...
  7. pmc Population-specific frequencies for LRRK2 susceptibility variants in the Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium
    Michael 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...
  8. pmc Genotype-phenotype correlations in THAP1 dystonia: molecular foundations and description of new cases
    Mark 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...
  9. pmc Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study
    Owen 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...
  10. pmc Role of Gα(olf) in familial and sporadic adult-onset primary dystonia
    Satya R Vemula
    Department of Neurology, University of Tennessee Health Science Center, Memphis, TN 38163, USA
    Hum Mol Genet 22:2510-9. 2013
    ....
  11. pmc Mitochondrial targeting sequence variants of the CHCHD2 gene are a risk for Lewy body disorders
    Kotaro 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...
  12. pmc Novel PRRT2 mutation in an African-American family with paroxysmal kinesigenic dyskinesia
    Peter 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...
  13. pmc An African-American family with dystonia
    Andreas 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...
  14. pmc LRRK2 variation and Parkinson's disease in African Americans
    Owen 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...
  15. pmc Autosomal dominant Parkinson's disease caused by SNCA duplications
    Takuya 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. ..
  16. pmc Human leukocyte antigen variation and Parkinson's disease
    Andreas 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...
  17. pmc Role for the microtubule-associated protein tau variant p.A152T in risk of α-synucleinopathies
    Catherine 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...
  18. pmc 18F-AV-1451 tau PET imaging correlates strongly with tau neuropathology in MAPT mutation carriers
    Ruben 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. ..
  19. doi Clinically meaningful parameters of progression and long-term outcome of Parkinson disease: An international consensus statement
    Andreas 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. ..