alexa Hereditary Spastic Paraplegias Phenotype Constitute Part Of Broader Rare Genetic Mendelian Inherited Disorders
ISSN: 2157-7412

Journal of Genetic Syndromes & Gene Therapy
Open Access

Like us on:
OMICS International organises 3000+ Global Conferenceseries Events every year across USA, Europe & Asia with support from 1000 more scientific Societies and Publishes 700+ Open Access Journals which contains over 50000 eminent personalities, reputed scientists as editorial board members.

Open Access Journals gaining more Readers and Citations

700 Journals and 15,000,000 Readers Each Journal is getting 25,000+ Readers

This Readership is 10 times more when compared to other Subscription Journals (Source: Google Analytics)

Share This Page

Additional Info

Loading
Loading Please wait..
 

2nd World Congress on Rare Diseases and Orphan Drugs
June 29-30, 2017 London, UK

Alice Abdel Aleem, Mahmoud F Elsaid, Nader Chalhoub, Khalid Ibrahim, MajidKamli, Firas AlTae, Omer F Kuzu and Arun Sikaruar
Weill Cornell Medical College, Qatar
Hamad General Hospital, Qatar
ScientificTracks Abstracts: J Genet Syndr Gene Ther
DOI: 10.4172/2157-7412-C1-012
Abstract
Hereditary Spastic Paraplegias (HSPs) are a group of rare neurological diseases of remarkable clinical and genetic heterogeneity. Cardinal features involve lower limbs spasticity, abnormal gait and difficult walking that eventually ends, in most of the cases, in being a wheel chair bound. Interestingly, presentation in patients with HSPs, particularly the autosomal recessive forms is much more than lower limbs spasticity and difficult walking. The variable association with developmental delay, psychomotor retardation, learning disabilities or even mental retardation, retinopathy, skin changes, distinctive brain malformation, ataxia, or extrapyramidal involvements brings up AR-HSPs as rare syndromes of broad clinical spectrum rather than just neurodegenerative spastic movement disorders. The axonal transport machinery, altered in HSP, comprises elaborate components of motor proteins, microtubules, shaping and distribution of subcellular organelles and enzymes involved in nucleotides or lipid metabolism. Families of different ethnic background; Qatari and other ethnicities, with a unified clinical feature of variably progressive lower limbs spasticity and walking difficulty were ascertained. Families either with only these standard features or in association with variable presentations of ataxia, pain insensitivity, remarkable vertebral destruction, regression in mental abilities, severe psychomotor retardation, and notable neuro-radiological abnormalities were enrolled in the study. Whole Genome Sequencing (WGS) was applied to identify candidate genes in the recruited families. Clinical findings are presented in addition to demographic and age groups’ distribution, complex HSP rare phenotypes with interesting extraneural presentations, of which, features of marked pain insensitivity, skin changes and cerebellar atrophy were seen in independent families. WGS revealed involvements of rarely encountered HSPs genes, of which genes deriving purines and fatty acid metabolism and mitochondrial proteins. A family with double pathogenic mutations in Parkin gene and a known HSP gene was identified. Identification of causative genes of rare Mendelian diseases in a research sitting promotes the opportunity to diagnostics molecular genetics, improved genetic counseling qualities and primary prevention.
Biography

Alice Abdel Aleem has her expertise in the field of Human Clinical and Molecular Genetics with particular interest in neurogenetics disorders. Her primary area of interest is to provide reliable and high quality research results to health care physicians to improve diagnostics in human genetic disorders. Her current extramural funded research is focusing on genes identification in monogenetic disorders. She is mainly concerned with building clinical and genomic databases for patients, encountered in Qatar, with spastic paraplegias, heritable muscle diseases, brain malformation, and interesting unrecognized Mendelian disorders. Results of her research is functionally investigated in her lab and in collaboration with investigators in international academic institutes in order to provide confirmed information to health care physicians to use in counseling and managing their patients.

Email: [email protected]

image PDF   |   image HTML
 

Relevant Topics

Peer Reviewed Journals
 
Make the best use of Scientific Research and information from our 700 + peer reviewed, Open Access Journals
International Conferences 2017-18
 
Meet Inspiring Speakers and Experts at our 3000+ Global Annual Meetings

Contact Us

 
© 2008-2017 OMICS International - Open Access Publisher. Best viewed in Mozilla Firefox | Google Chrome | Above IE 7.0 version
adwords