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Sökning: WFRF:(Puschmann Andreas) > (2010-2014) > Bokkapitel

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1.
  • Puschmann, Andreas (författare)
  • Genetics of Parkinson's
  • 2012
  • Ingår i: Life with Parkinson's. Accurate Diagnosis, Treatment and Care. ; , s. 88-90
  • Bokkapitel (populärvet., debatt m.m.)
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2.
  • Puschmann, Andreas, et al. (författare)
  • Genotype-Phenotype Correlations in Parkinson Disease
  • 2014
  • Ingår i: Movement Disorders: Genetics and Models, 2nd Edition. - 9780124051959 - 9780124055162 ; , s. 259-285
  • Bokkapitel (refereegranskat)abstract
    • Mutations in four autosomal dominant (SNCA, LRRK2, VPS35, EIF4G1) and three recessive genes (PARK2, PINK1, PARK7/DJ1) are known to cause Parkinson disease (PD). This chapter describes the clinical and pathological phenotypes associated with mutations in these genes. We systematically reviewed the phenotypes associated with all known pathogenic mutations in the dominant genes. SNCA point mutations and genomic multiplications cause a disorder with akinetic-rigid Parkinsonism, dysautonomia, cognitive decline, myoclonus, and pronounced alpha-synuclein pathology. LRRK2 mutations cause tremor-dominant or akinetic-rigid Parkinsonism with variable pathology. Our knowledge about the newly described genes VPS35 and EIF4G1 is still limited. Homozygous or compound heterozygous mutations in the recessive PD genes cause Parkinsonism with an early or very-early onset, but many different mutations are found in these genes and genotype-phenotype correlations are based on low numbers of patients per mutation. Homozygous mutations in GBA may cause Parkinsonism, usually in patients who have Gaucher disease, whereas heterozygous GBA mutations are genetic risk factors for PD. The monogenic forms of PD represent distinct subtypes of this heterogeneous disorder.
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3.
  • Puschmann, Andreas, et al. (författare)
  • Olfactory Dysfunction.
  • 2013
  • Ingår i: Parkinson's Disease and Nonmotor Dysfunction. - 9781607614296 - 9781607614289 ; , s. 335-348
  • Bokkapitel (refereegranskat)abstract
    • Olfactory dysfunction is well documented as an early nonmotor manifestation of Parkinson’s disease (PD). This chapter outlines the anatomy and physiology of the olfactory system and summarizes the pathological changes in the olfactory system in PD. We review the occurrence of olfactory dysfunction in parkinsonian syndromes and familial parkinsonism. Different methods to assess olfactory function are presented. Their usefulness in routine clinical situations is limited to special diagnostic situations. However, these methods have provided important insights into the pathophysiology of parkinsonism and can help to identify at-risk groups for future neuroprotective trials. Several lines of evidence now suggest that olfactory disturbance reflects Lewy pathology more closely than it reflects striatonigral dopamine deficiency.
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  • Resultat 1-3 av 3
Typ av publikation
bokkapitel  (3)Ta bort avgränsningen
Typ av innehåll
refereegranskat (2)
populärvet., debatt m.m. (1)
Författare/redaktör
Puschmann, Andreas (3)
Wszolek, Zbigniew K. (2)
LeDoux, Mark S. (1)
Pfeiffer, Ronald F (1)
Bodis-Wollner, Ivan (1)
Lärosäte
Lunds universitet (3)
Språk
Engelska (3)
Forskningsämne (UKÄ/SCB)
Medicin och hälsovetenskap (3)

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