An exploration of the genetics of the mutant Huntingtin (mHtt) gene in a cohort of patients with chorea from different ethnic groups in sub-Saharan Africa.

BACKGROUND: Africans are underrepresented in Huntington's disease (HD) research. A European ancestor was postulated to have introduced the mutant Huntingtin (mHtt) gene to the continent; however, recent work has shown the existence of a unique Htt haplotype in South-Africa specific to indigenous Africans. OBJECTIVE: We aimed to investigate the CAG trinucleotide repeats expansion in the Htt gene in a geographically diverse cohort of patients with chorea and unaffected controls from sub-Saharan Africa. METHODS: We evaluated 99 participants: 43 patients with chorea, 21 asymptomatic first-degree relatives of subjects with chorea, and 35 healthy controls for the presence of the mHtt. Participants were recruited from 5 African countries. Additional data were collected from patients positive for the mHtt gene; these included demographics, the presence of psychiatric and (or) cognitive symptoms, family history, spoken languages, and ethnic origin. Additionally, their pedigrees were examined to estimate the number of people at risk of developing HD and to trace back the earliest account of the disease in each region. RESULTS: HD cases were identified in all countries. Overall, 53.4% of patients with chorea were carriers for the mHTT; median tract size was 45 CAG repeats. Of the asymptomatic relatives, 28.6% (6/21) were carriers for the mHTT; median tract size was 40 CAG. No homozygous carries were identified. Median CAG tract size in controls was 17 CAG repeats. Men and women were equally affected by HD. All patients with HD-bar three who were juvenile onset of <21 years-were defined as adult onset (median age of onset was 40 years). HD transmission followed an autosomal dominant pattern in 84.2% (16/19) of HD families. In familial cases, maternal transmission was higher 52.6% (10/19) than paternal transmission 36.8% (7/19). The number of asymptomatic individuals at risk of developing HD was estimated at ten times more than the symptomatic patients. HD could be traced back to the early 1900s in most African sites. HD cases spread over seven ethnic groups belonging to two distinct linguistic lineages separated from each other approximately 54-16 kya ago: Nilo-Sahara and Niger-Congo. CONCLUSION: This is the first study examining HD in multiple sites in sub-Saharan Africa. We demonstrated that HD is found in multiple ethnic groups residing in five sub-Saharan African countries including the first genetically confirmed HD cases from Guinea and Kenya. The prevalence of HD in the African continent, its associated socio-economic impact, and genetic origins need further exploration and reappraisal.

Ischemic Stroke and Ruptured Mycotic Aneurysm, Two Complications of Infective Endocarditis in One Patient.

The incidence of infective endocarditis is estimated to be around 30 cases per million inhabitants/year. It can be responsible for various neurological complications such as cerebral infarction, meningitis, cerebral abscesses, and cerebral hemorrhage due to ruptured mycotic aneurysms. Several germs have been incriminated in this condition including Staphylococcus, Streptococcus, and Enterococcus. We report the case of a 64-year-old patient who presented with an acute motor deficit of the left upper limb associated with dysarthria. MRI showed infarcts in both cerebral hemispheres, and the TOF sequence showed an amputation of M2. On transesophageal ultrasound, there was evidence of vegetations at the mitral valve. Blood culture isolated Streptococcus oralis. With antibiotic treatment, the evolution was marked by a stable apyrexia with regression of the dysarthria. Before her surgery, she suddenly developed aphasia with worsening of the motor deficit. CT scan showed a right fronto-parietal hematoma which was related to a ruptured cerebral aneurysm. She underwent endovascular embolisation and subsequent cardiac surgery.

Sturge Weber syndrome, when brain CT is enough for diagnosis: about a case.

One of the main manifestations of Sturge Weber syndrome is seizures. We report the case of a child received in the context of generalized seizures and in whom a cerebral contrast CT was sufficient to make the diagnosis of Sturge Weber syndrome.

Neuromyelitis optica spectrum disorders (NMO-SD) in a Sub-Saharan Africa country: A preliminary study of sixteen Senegalese cases.

BACKGROUND: Neuromyelitis optica (NMO) is an autoimmune disease of the central nervous system. In Sub-Saharan Africa, publications are rare and deal with isolated cases. Our goal was to analyze the characteristics of NMO spectrum disorders in a Senegalese cohort compiled in Dakar. PATIENTS AND METHOD: This was a retrospective descriptive study conducted at the Neurology Department of Fann Teaching Hospital. We included all patients with NMO-SD according to the 2014 diagnostic criteria. RESULTS: Sixteen patients were enrolled, 4 men and 12 women with an average age of 30 years. Ten patients (62.5%) presented an acute myelopathy associated with retrobulbar optic neuritis and 5 (31.25%) had isolated spinal cord injury. Spinal MRI showed abnormal cervical (6 patients), dorsal (4 patients), bulbar-cervical (3 patients) or cervico-dorsal (2 patients) signal extended (≥3 vertebral segments) of the spinal cord. Visual evoked potentials (VEP) showed demyelinating optic nerve involvement in 8 patients. Ten patients were positive to AQP-4 IgG. Systemic corticosteroid therapy was the rule in all patients, associated with azathioprine in 10 of them. The clinical course at 3 months was predominantly favourable (10 patients). CONCLUSION: This cohort is the first one compiled in Dakar. African multicentric epidemiological studies are needed.