Stroke units in Nigeria: a report from a nationwide organizational cross-sectional survey.

Introduction: stroke is one of the leading causes of death and disability in Nigeria. Stroke unit care is crucial for reducing mortality and morbidity in stroke. This study describes the stroke units' structure, organization, and care process in Nigerian tertiary hospitals. Methods: this study is a cross-sectional descriptive organizational survey-based study using an online structured questionnaire to collect information on the stroke units. Results: five (8.6%) out of 58 hospitals had a stroke unit. The number of beds ranged between 10 and 27 with the coverage of hospital stroke patients ranging from 24% to 100%. All the centers had a multidisciplinary team for their unit. The basic required investigations like computerized tomography and electrocardiography were available in the centers. Thrombolytic therapy coverage was suboptimal in all the centers due to prolonged onset-to-arrival times and inaccessibility of thrombolytic medications. Conclusion: there has been some progress in stroke unit availability since the country´s first stroke unit was established over a decade ago. However, there is still the need to create more stroke units in Nigeria and improve reperfusion therapy coverage.

A human calculator: a case report of a 27-year-old male with hypercalculia.

Calculation is one of the higher brain functions, which has been linked to the inferior parietal lobule and part of the frontal lobe. Cases of hypercalculia have been reported, usually in the setting of Autism-Spectrum Disorder or Savant syndrome. We report the case of a 27-year-old male undergraduate who had hypercalculia with normal clinical neurological findings. His brain MRI showed a nonspecific lesion in the right parietal lobe white matter. Further functional neuroimaging is suggested.

Early-Onset Parkinson Disease Screening in Patients From Nigeria.

Introduction: Nigeria is one of the most populated countries in the world; however, there is a scarcity of studies in patients with age-related neurodegenerative diseases, such as Parkinson disease (PD). The aim of this study was to screen patients with PD including a small cohort of early-onset PD (EOPD) cases from Nigeria for PRKN, PINK1, DJ1, SNCA multiplication, and LRRK2 p.G2019S. Methods: We assembled a cohort of 109 Nigerian patients with PD from the four main Nigerian tribes: Yoruba, Igbo, Edo, and Hausa. Fifteen cases [14 from the Yoruba tribe (93.3%)] had EOPD (defined as age-at-onset <50 years). All patients with EOPD were sequenced for the coding regions of PRKN, PINK1, and DJ1. Exon dosage analysis was performed with a multiplex ligation-dependent probe amplification assay, which also included a SNCA probe and LRRK2 p.G2019S. We screened for LRRK2 p.G2019S in the entire PD cohort using a genotyping assay. The PINK1 p.R501Q functional analysis was conducted. Results: In 15 patients with EOPD, 22 variants were observed [PRKN, 9 (40.9%); PINK1, 10 (45.5%); and DJ1, 3 (13.6%)]. Three (13.6%) rare, nonsynonymous variants were identified, but no homozygous or compound heterozygous carriers were found. No exonic rearrangements were present in the three genes, and no carriers of SNCA genomic multiplications or LRRK2 p.G2019S were identified. The PINK1 p.R501Q functional analysis revealed pathogenic loss of function. Conclusion: More studies on age-related neurodegenerative diseases are needed in sub-Saharan African countries, including Nigeria. Population-specific variation may provide insight into the genes involved in PD in the local population but may also contribute to larger studiesperformed in White and Asian populations.

Profile of Nonmotor Symptoms and the Association with the Quality of Life of Parkinson's Disease Patients in Nigeria.

CONTEXT: Parkinson's disease (PD) is the second most common neurodegenerative disorder. Several nonmotor symptoms (NMS) are associated with the condition, affecting multiple body systems in addition to the nervous system. AIMS: The aim of the study is to describe the profile of NMS and the factors related to their severity as well as their association with the quality of life (QoL) among patients with PD in a Nigerian neurology clinic. METHODS: A total of 105 patients with PD and 105 healthy controls were assessed for various NMS using a validated NMS assessment scale. A validated PD-specific QoL assessment tool, the PD Questionnaire-39 was also administered to the study patients with PD. Analyses for correlation and difference were performed to determine the associated factors of NMS severity and their association with QoL. RESULTS: The most common NMS in the PD patients were in the domains of sleep/fatigue and mood/cognition. The total NMS score were significantly higher in patients compared to controls (median [interquartile range] 42 [13-72] vs. 20 [14-29], P < 0.001). There was a significantly higher score in the advanced Hoehn and Yahr stages (P < 0.001). The duration of PD had a positive correlation with the NMS scores (rs= 0.207, P = 0.034. The total NMS score had a strong positive correlation with the QoL (rs= 0.851, P < 0.001). CONCLUSION: PD is associated with significant NMS and worsens with the progression of the disease and the duration of illness. These NMS have a significant association with the QoL, necessitating the need for detailed and prompt evaluation and management.

Machado-Joseph disease in a Nigerian family: mutational origin and review of the literature.

Machado-Joseph disease (MJD) has been described in Africans, but no cases have been reported from Nigeria. Current MJD global distribution results from both the ancestral populations-of-origin and the founder effects of mutations, some as a consequence of the Portuguese sea travels in the 15th to 16th century. Two main ancestral haplotypes have been identified: the Machado lineage, which is more recent, predominant in families of Portuguese extraction, and the Joseph lineage, which is much older and worldwide spread, postulated to have an Asian origin. We report a Nigerian family with MJD from Calabar, once settled by Portuguese slave traders, and assessed its mutational origin. The proband was a 33-year-old man with progressive unsteady gait, weakness of all limbs, dysphagia, dysarthria, urinary frequency and diaphoresis. He had end-of-gaze nystagmus, spastic quadriparesis and atrophic small muscles of the hand. He showed fibrillation potentials on EMG, and nerve conduction studies suggested a central axonopathy without demyelination. This family bears the Joseph haplotype, which has a founder effect in the island of Flores, in the Azores (and their descendants in North-America), but is also the most common in non-Portuguese populations worldwide, with an estimated mutation age of around 7000 years.