Rajib Dutta
West China School of Medicine, 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 household work and her movements became slower as time passed by. Four months ago, she ), 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 typefaces. In view of positive family history, parkinsonism symptoms, depression/apathy patient was diagnosed with definite PS(Perry syndrome) supported by international diagnostic criteria. PSG showed airflow restriction and hypoventilation using the apnea-hypopnea index.The genetic test was performed which confirmed novel point DCTN 1 gene mutation. The patient was started on Antiparkinsonian agents, antidepressants, and clonazepam and her symptoms got somewhat better.
Conclusion and significance: We have diagnosed the first Asian case of a PS with a novel point mutation p.G67S of the DCTN1 gene in exon 2 not reported yet. Our observation suggests that patients/family members may not present with all the cardinal features of PS but still, it has to be ruled out with gene testing mainly because of two reasons:
1)an early timed diagnosis can significantly modify the progression of a disease.
2)Improve the quality of life by use of diaphragmatic pacing and can prevent life-threatening episodes of acute respiratory failure and eventually death.