Our knowledge of familial atypical parkinsonian disorders has increased greatly over the past decade. Families with unique phenotypes have been newly discovered, and the molecular basis for some of these phenotypes has been established. These molecular genetic discoveries allow us to make more precise clinical diagnoses of several neurodegenerative conditions, including HD, SCA, and dystonia. Future discoveries using transgenic animal models can be expected to lead to a better classification of these disorders and to the development of improved treatments (and cures).
The refinement of molecular genetic techniques and a growing interest in the genetics of parkin-sonism will undoubtedly lead to improved characterization and classification of familial atypical parkinsonian syndromes. It is hoped that a classification based on genotype (rather than phenotype alone) will lead to earlier and more accurate diagnoses and more timely and appropriate genetic counseling. Differentiating atypical parkinsonism from idiopathic PD is important because prognosis for each of these conditions varies. There is also a need to develop clinical and pathological criteria for atypical parkinsonian conditions. If specific disease biomarkers are identified, they can further improve accuracy of diagnosis, even in the early or presymptomatic stages.
Probands and families may be interested in genetic counseling; thus, appropriate referral needs to be arranged by the treating neurologist. Genetic testing is already commercially available for some of the atypical parkinsonian disorders and undoubtedly more diagnostic tests will become available in the near future. Treatment for these rare conditions is still supportive in nature. It is hoped that better symptomatic and curative therapies will eventually be developed. This will require a multifaceted approach involving molecular genetics, transgenic animal models, cell biology, and a deeper understanding of the underlying pathologic features in each of these disorders.
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