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Laryngeal dystonia as a presenting symptom of young-onset Parkinson's disease

✍ Scribed by Spiridon Papapetropoulos; Donna S. Lundy; Roy R. Casiano; Carlos Singer

Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
44 KB
Volume
22
Category
Article
ISSN
0885-3185

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✦ Synopsis

Echocardiogram revealed diffuse hypokinesis, dilatation of left ventricular cavity, and thinning of left ventricular wall. Ejection fraction was decreased to 49%. Cardiac muscle biopsy demonstrated hypertrophied cardiomyocyte and interstitial fibrosis of left ventricle. A gastrocnemius muscle biopsy revealed striking myopathic changes: variation in fiber size, central nuclei, and interstitial fibrosis with fiber neclosis. Neurogenic group atrophy was occasionally seen. Immunohistochemical study for dystrophin was normal.

Kell blood antigen analysis showed normal expression. Direct sequence of XK gene (McS gene) from genomic DNA sample revealed no mutations. VPS13A gene (ChAc gene) analysis showed compound heterozygote; heterozygous deletion of exon 60 and 61 and heterozygous point mutation (9403C Ͼ T) in exon 72. Accordingly, he was diagnosed as having ChAc.

Initially his cardiac problem was asymptomatic. As the involuntary movements progressed, he suffered from several attacks of ventricular tachycardia. At the age of 47-years, he was brought to the emergency room because of cardiac arrest and died despite cardiopulmonary resuscitation.

The general autopsy revealed a dilated cardiomyopathy. Neuropathological study showed prominent neuronal cell loss and astrogliosis of putamen and caudate nucleus, compatible with ChAc.

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