West China Hospital, China
Title: Many faces of DCTN-1 (Dynactin ) gene mutation in Neurodegenerative diseases
Rajib Dutta is a postgraduate neurology trainee 1st year in china with MRCP UK London, Diploma in emergency Medicine (Royal college UK), Diploma in clinical neuropsychology (UK), Pediatric Neurology certification BPNA (UK, ongoing). My professor is a movement disorder and neurodegenerative specialist in china and we see different spectrum of movement disorders patient like chorea, dystonia, PD, tremors, myoclonus, AD, FTD, ALS, LBD, WD and other disorders like PERRY syndrome, Episodic ataxias, Parkinson plus syndromes (MSA,PSP,CBD), Dyskinesias (PKD,PED etc) so my research interest revolves around PD, Camptocormia, Paraneoplastic antibody syndromes or degeneration related to movement disorders.
Statement of the problem: Axonal 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. Case: 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. Conclusion and significance: 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. 2)Improve quality of life by use of diaphragmatic pacing and can prevent life-threatening episodes of acute respiratory failure and eventually death.