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Dystonia in Costello syndrome
M Dileone1, G Zampino, P Profice
1Department of Neurosciences, Università Cattolica, Lgo A. Gemelli 8, 00168 Rome, Italy.
Parkinsonism & Related Disorders
|April 19, 2012
Summary
Costello Syndrome, a genetic disorder, is linked to abnormal postures, particularly finger deviation. This study suggests generalized dystonia may cause these motor and postural issues in affected individuals.
Area of Science:
- Genetics and Developmental Biology
- Neurology and Movement Disorders
Background:
- Costello Syndrome is a rare disorder caused by HRAS gene mutations.
- It presents with congenital anomalies and is associated with advanced parental age.
- Abnormal hand posture is a known feature, but its cause is unknown.
Purpose of the Study:
- To characterize the postural and motor abnormalities in Costello Syndrome.
- To investigate the underlying pathophysiology of these abnormalities.
- To evaluate sensorimotor plasticity in patients.
Main Methods:
- Evaluated posture and movement in six Costello Syndrome patients.
- Assessed motor cortex plasticity using Paired Associative Stimulation.
- Focused on genetically confirmed cases.
Main Results:
- All patients displayed typical Costello Syndrome postural abnormalities, including reducible ulnar finger deviation.
- Dystonic features were observed in the face, limbs, and trunk.
- Altered sensorimotor plasticity indicated generalized dystonia.
Conclusions:
- Generalized dystonia is suggested as the cause of abnormal postures in Costello Syndrome.
- This finding clarifies the pathophysiology of motor and postural issues.
- Further research into dystonia in Costello Syndrome is warranted.
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