tau/multiple mutations 25-76 (49)
Pantothenate kinase/ multiple mutations
FTD, PD, PSP, CBgD, ALS Rapid-onset dystonia-parkinsonism
4-64 Parkinsonism, dystonia, spasticity, dementia
11-16 (10's) PD, dementia, gaze palsy X-linked recessive
12-48 (35) Dystonia-parkinsonism
Good Lewy bodies in brainstem, Lewy neurite, and vacuolization in temporal cortex
Good Lewy bodies and amyloid plaques
Good Variable: pure nigral degeneration, Lewy body, tau pathology
Poor Tau pathology
Poor Iron accumulation, Lewy bodies
Poor No Lewy bodies tant step in the acyl-CoA-metabolism (102). As with many other diseases, the discovery of the gene led to the appreciation of a broader phenotype, including cases of adult-onset atypical parkinsonism. It seems that all cases show the typical MRI changes, leading to the correct diagnosis.
CONCLUSIONS: IMPACT OF GENETICS ON NOSOLOGY
The identification of several genes that lead to monogenic forms of the major neurodegenerative disorders has greatly advanced our understanding of the molecular mechanisms involved. However, the careful analysis of their clinical and pathologic features reveals that, although they share many features with the respective sporadic diseases, there are clearly also important differences. Therefore, those disorders should be viewed as natural models, recapitulating some, but certainly not all features of their molecular pathogenesis. Perhaps most remarkably, both the variability of the phenotypes associated with single gene mutations, as well as the similarities and overlap between disorders caused by alterations in different genes appear to indicate that we are dealing in fact not with strictly distinct pathways, but rather with a complex metabolic network, consisting of pathogenic mutations, genetic modifiers, and probably also environmental influences, which defines the course of the disease in a given patient.
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