neuroimaging-2018-posters-abstracts

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.com

Volume 3

October 03-04, 2018 Osaka, Japan

Pediatric Neurology & Medicine

International conference on

euroscience

, N

euroradiology

and

maging

Neuroimaging 2018

October 03-04, 2018

J Pediatr Neurol Med 2018, Volume 3

DOI: 10.4172/2472-100X-C1-003

Many faces of

DCTN1

(Dynactin) gene mutation in neurodegenerative diseases

Rajib Dutta

West China Hospital, China

xonal transport machinery is central to neuronal health and survival, with dysfunction implicated in several

neurodegenerative disorders including AD, FTLD, MND/ALS and PD and PD plus syndromes, HMN 7B and Perry

Syndrome all associated with dynactin pathology. 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 DCTN1 gene mutation. Patient was started on antiparkinsonian agents,

antidepressants and Clonazepam and her symptoms got somewhat better. We have diagnosed the first Asian case of a PS with

a novel point mutation p.G67S of DCTN1 gene in exon 2 not reported in literature 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 will lead to early symptomatic treatment which can significantly modify

the progression of disease, and (2) Improve quality of life by use of diaphragmatic pacing and can prevent life-threatening

episodes of acute respiratory failure and eventually death.