The Parkinson's-Reversing Breakthrough

Is There A Cure for Parkinson Disease

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17q21-22 19ql3

20pl2.3 lp36


tau/multiple mutations 25-76 (49)


Pantothenate kinase/ multiple mutations

Unknown Unknown

FTD, PD, PSP, CBgD, ALS Rapid-onset dystonia-parkinsonism

Autosomal recessive

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 Unknown

Poor Iron accumulation, Lewy bodies

Good Unknown

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.


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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