Rajib Dutta
West china Hospital,Chengdu PRC, China
Title: Many faces of DCTN-1 (Dynactin ) gene mutation in Neurodegenerative diseases
Biography
Biography: Rajib Dutta
Abstract
A 45 year old working lady presented to us with bradykinesia for six months, accompanied with difficulty in walking for four months. Six months ago, the patient started feeling clumsy while doing house hold work and her movements became slower as time passed by.Four months ago, she started to have difficulty in walking which gradually aggravated. Since onset, she was depressed, and experienced sleep related behavioral issues but never lost weight.Her Mother had similar symptoms but was on antiparkinsonian drugs.P/E: increased muscle tone in all 4 limbs ,right >> left with reduced right arm swing, with masked type facies . In view of positive family history ,parkinsonism symptoms, depression/apathy patient was diagnosed with definite PS(Perry syndrome) supported by international diagnostic criteria.To confirm PSG showed airflow restriction and hypoventilation using apnea hypopnea index with no respiratory acidosis in ABG .Genetic test was performed which confirmed novel point DCTN 1 gene mutation.Patient was started on Antiparkinsonian agents,antidepressants , and clonazepam and her symptoms got somewhat better.