Clinical and genetic data of Huntington disease in Moroccan patients.

Afr Health Sci

Equipe de Recherche sur les Maladies Neurodégénératives, Faculté de Médecine et de Pharmacie, Université Mohammed V de Rabat, Morocco; Service de Neurologie et de Neurogénétique, Hôpital des Spécialités de Rabat, Morocco.

Published: December 2015

Background: Huntington's disease (HD) occurs worldwide with prevalence varying from 0.1 to 10/100,000 depending of the ethnic origin. Since no data is available in the Maghreb population, the aim of this study is to describe clinical and genetic characteristics of Huntington patients of Moroccan origin.

Methods: Clinical and genetics data of 21 consecutive patients recruited from 2009 to 2014 from the outpatient clinic of six medical centers were analyzed. Statistical analysis was performed using descriptive statistics.

Results: Twenty one patients from 17 families were diagnosed positive for the IT15 gene CAG expansion. Clinical symptoms were predominantly motor (19/21). Twelve patients had psychiatric and behavioral disorders, and 11 patients had cognitive disorders essentially of memory impairment. Analysis of genetic results showed that 5 patients had reduced penetrant (RP) alleles and 16 had fully penetrant (FP) alleles. The mean CAG repeat length in patients with RP alleles was 38.4 ± 0.54, and 45.37 ± 8.30 in FP alleles. The age of onset and the size of the CAG repeat length showed significant inverse correlation (p <0.001, r = -0.754).

Conclusion: Clinical and genetic data of Moroccan patients are similar to those of Caucasian populations previously reported in the literature.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4765413PMC
http://dx.doi.org/10.4314/ahs.v15i4.23DOI Listing

Publication Analysis

Top Keywords

clinical genetic
8
patients
8
penetrant alleles
8
cag repeat
8
repeat length
8
clinical
4
genetic data
4
data huntington
4
huntington disease
4
disease moroccan
4

Similar Publications

Autism spectrum disorder (ASD) is a globally recognized neurodevelopmental condition characterized by repetitive and restrictive behavior, persistent deficits in social interaction and communication, mental disturbances, etc., affecting approximately 1 in 100 children worldwide. A combination of genetic and environmental factors is involved in the etiopathogenesis of the disease, but specific biomarkers have not yet been identified.

View Article and Find Full Text PDF

Therapeutic hurdles persist in the fight against lung cancer, although it is a leading cause of cancer-related deaths worldwide. Results are still not up to par, even with the best efforts of conventional medicine, thus new avenues of investigation are required. Examining how immunotherapy, precision medicine, and AI are being used to manage lung cancer, this review shows how these tools can change the game for patients and increase their chances of survival.

View Article and Find Full Text PDF

Background: Gallbladder neuroendocrine carcinoma (NEC) represents a subtype of gallbladder malignancies characterized by a low incidence, aggressive nature, and poor prognosis. Despite its clinical severity, the genetic alterations, mechanisms, and signaling pathways underlying gallbladder NEC remain unclear.

Case Summary: This case study presents a rare instance of primary gallbladder NEC in a 73-year-old female patient, who underwent a radical cholecystectomy with hepatic hilar lymphadenectomy and resection of liver segments IV-B and V.

View Article and Find Full Text PDF

Unraveling the landscape of pediatric pancreatic tumors: Insights from Japan.

World J Gastrointest Oncol

January 2025

Faculty of Medicine, Imperial College London, London SW7 2AZ, United Kingdom.

Pediatric pancreatic tumors, though rare, pose significant diagnostic and management challenges. The recent, 22-year nationwide survey on pediatric pancreatic tumors in Japan by Makita offers valuable insights into this uncommon entity, revealing striking geographical variations and questioning current treatment paradigms. This editorial commentary analyzes the study's key findings, including the predominance of solid pseudopapillary neoplasms and their younger age of onset, which contrast sharply with Western data.

View Article and Find Full Text PDF

Background: Transforming growth factor-β (TGF-β) superfamily plays an important role in tumor progression and metastasis. Activin A receptor type 1C (ACVR1C) is a TGF-β type I receptor that is involved in tumorigenesis through binding to different ligands.

Aim: To evaluate the correlation between single nucleotide polymorphisms (SNPs) of ACVR1C and susceptibility to esophageal squamous cell carcinoma (ESCC) in Chinese Han population.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!