The Genetic Architecture of Parkinson's Disease in the AfrAbia Population: Current State and Future Perspectives.

Over 80% of genetic studies in the Parkinson's disease (PD) field have been conducted on individuals of European descent. There is a social and scientific imperative to understand the genetic basis of PD across global populations for therapeutic development and deployment. PD etiology is impacted by genetic and environmental factors that are variable by ancestry and region, emphasising the need for worldwide programs to gather large numbers of patients to identify novel candidate genes and risk loci involved in disease. Only a handful of documented genetic assessments have investigated families with PD in AfrAbia, which comprises the member nations of the Arab League and the African Union, with very limited cohort and case-control studies reported. This review article summarises prior research on PD genetics in AfrAbia, highlighting gaps and challenges. We discuss the etiological risk spectrum in the context of historical interactions, highlighting allele frequencies, penetrance, and the clinical manifestations of known genetic variants in the AfrAbian PD patient community.

The burden attributable to primary headache disorders in children and adolescents in Ethiopia: estimates from a national schools-based study.

BACKGROUND: We previously reported high prevalences of headache disorders among children (6-11 years) and adolescents (12-17 years) in Ethiopia. Here we provide data on headache-attributed burden collected contemporaneously from the same study participants. Part of the global schools-based programme within the Global Campaign against Headache, the study is the first to present such data from sub-Saharan Africa. METHODS: A cross-sectional survey following the generic protocol for the global study was conducted in six schools (urban and rural), in Addis Ababa city and three regions of Ethiopia. The child or adolescent versions of the Headache-Attributed Restriction, Disability, Social Handicap and Impaired Participation (HARDSHIP) structured questionnaires were self-completed under supervision by pupils in class. Headache diagnostic questions were based on ICHD-3 beta but for the inclusion of undifferentiated headache (UdH). RESULTS: Of 2,349 eligible participants, 2,344 completed the questionnaires (1,011 children [43.1%], 1,333 adolescents [56.9%]; 1,157 males [49.4%], 1,187 females [50.6%]; participating proportion 99.8%). Gender- and age-adjusted 1-year prevalence of headache, reported previously, was 72.8% (migraine: 38.6%; tension-type headache [TTH]: 19.9%; UdH: 12.3%; headache on ≥ 15 days/month (H15+): 1.2%). Mean headache frequency was 2.6 days/4 weeks but, with mean duration of 2.7 h, mean proportion of time with headache was only 1.0% (migraine: 1.4%; TTH: 0.7%; H15+: 9.1%). Mean intensity was 1.8 on a scale of 1-3. Symptomatic medication was consumed on about one third of headache days across headache types. Lost school time reportedly averaged 0.7 days over the preceding 4 weeks, representing 3.5% of school time, but was 2.4 days/4 weeks (12.0%) in the important small minority with H15+. However, actual absences with headache the day before indicated averages overall of 9.7% of school time lost, and 13.3% among those with migraine. Emotional impact and quality-of-life scores reflected other measures of burden, with clear adverse impact gradients (H15 + > migraine > TTH > UdH). CONCLUSIONS: The high prevalence of headache among children and adolescents in Ethiopia, who represent half its population, is associated with substantial burden. Lost school time is probably the most important consequence. Estimates suggest a quite deleterious effect, likely to be reflected in both individual prospects and the prosperity of society.

Underrepresented Populations in Parkinson's Genetics Research: Current Landscape and Future Directions.

BACKGROUND: Human genetics research lacks diversity; over 80% of genome-wide association studies have been conducted on individuals of European ancestry. In addition to limiting insights regarding disease mechanisms, disproportionate representation can create disparities preventing equitable implementation of personalized medicine. OBJECTIVE: This systematic review provides an overview of research involving Parkinson's disease (PD) genetics in underrepresented populations (URP) and sets a baseline to measure the future impact of current efforts in those populations. METHODS: We searched PubMed and EMBASE until October 2021 using search strings for "PD," "genetics," the main "URP," and and the countries in Latin America, Caribbean, Africa, Asia, and Oceania (excluding Australia and New Zealand). Inclusion criteria were original studies, written in English, reporting genetic results on PD from non-European populations. Two levels of independent reviewers identified and extracted information. RESULTS: We observed imbalances in PD genetic studies among URPs. Asian participants from Greater China were described in the majority of the articles published (57%), but other populations were less well studied; for example, Blacks were represented in just 4.0% of the publications. Also, although idiopathic PD was more studied than monogenic forms of the disease, most studies analyzed a limited number of genetic variants. We identified just nine studies using a genome-wide approach published up to 2021, including URPs. CONCLUSION: This review provides insight into the significant lack of population diversity in PD research highlighting the immediate need for better representation. The Global Parkinson's Genetics Program (GP2) and similar initiatives aim to impact research in URPs, and the early metrics presented here can be used to measure progress in the field of PD genetics in the future. © 2022 International Parkinson and Movement Disorder Society.

Non-Motor Symptoms and Associated Factors in Parkinson's Disease Patients in Addis Ababa, Ethiopia: A Multicenter Cross-Sectional Study.

BACKGROUND: Non-motor symptoms (NMSs) of Parkinson's disease (PD) were often overlooked and less studied. Little is known about NMSs in Ethiopia. The aim of the study was to determine the prevalence of NMSs and associated factors. METHODS: A multi-center cross-sectional observational study was conducted. NMS questionnaire was used to screen for the NMSs. Both descriptive and analytical statistics were used to analyze the data. RESULTS: Total of 123 PD patients with median of 4 years were investigated. The mean age of PD patients was 62.9 years. The mean age of PD onset was 58.3 years. In 23.6% the age of onset was below age 50. Males accounted 72.4%. Majority of the patients were on Levodopa alone and 31.7% were on levodopa plus trihexyphenidyl. Longer duration of illness was associated with frequent occurrence of NMSs. Constipation was the commonest NMS (78%), followed by urinary urgency (67.5%) and nocturia (63.4%). An unexplained pain was reported by 45.5 %, cognitive impairment (45.5%), and sleep disturbance was reported by 45.5% of the study participants. Neurophysciatric symptoms were reported by small proportion of the patients. Lower monthly earning was associated with swallowing problem, unexplained weight change, and lighheadness. CONCLUSION: The prevalence of NMS was high among PD patients in Ethiopia. Constipation was the commonest NMS. Longer duration of illness was associated with frequent occurrence of NMSs. Lower monthly earning was associated with swallowing problem, unexplained weight change, and lighheadness.

Madelung's disease in a non-alcoholic Ethiopian male patient mistaken for obesity: a case report.

BACKGROUND: Madelung's disease (MD) is a rare disorder of fat storage characterized by the presence of diffuse, symmetrical deposition of subcutaneous fat around the neck, shoulder, arm, trunk and thigh. Although its cause is not fully understood, this benign condition is commonly presented among adult males with Mediterranean origin and history of alcohol abuse. Patients often presents with compression of vital structures, cosmetic disfigurement and associated psychosocial problems and systemic comorbidities. It is often under-recognized by physicians, possibly due to obliviousness of the condition and often misdiagnosed as obesity. CASE PRESENTATION: We present a 65-year-old non-alcoholic black Ethiopian man, presented with a slowly growing body fat in his trunk and proximal limbs associated by multiple joint and back pain which got worse recently. He denied any history of chronic alcohol use. On examination, huge, bilateral, non-tender, soft, globular masses in his torso, shoulder, arm and thigh with bilateral breast enlargement. On investigation his biochemical profile was normal except hyperuricemia (10.6 mg/dl). Imaging of the cervical and lumbar vertebrae showed excess subcutaneous fat depositions with degenerative disc disease. Biopsy from the mass revealed non-encapsulated lipoma and he was diagnosed with type II MD. We treated his pain with supportive therapy and discharged in stable condition. The patient deferred surgical treatment. CONCLUSIONS: Madelung's disease is often reported among white adult males with chronic alcoholism. However, our case reported a black man without the typical risk factor which was misdiagnosed as obesity. Hence, clinicians should be aware of MD and need to consider it in their differential diagnosis when encountered with a patient having progressive centripetal fat deposition with or without a history of alcoholism and systemic comorbidities. As early detection of this disorder helps to avoid diagnostic delays and prevent complications through timely interventions which will in turn improves patient quality of life.

Structured headache services as the solution to the ill-health burden of headache: 1. Rationale and description

In countries where headache services exist at all, their focus is usually on specialist (tertiary) care. This is clinically and economically inappropriate: most headache disorders can effectively and more efficiently (and at lower cost) be treated in educationally supported primary care. At the same time, compartmentalizing divisions between primary, secondary and tertiary care in many health-care systems create multiple inefficiencies, confronting patients attempting to navigate these levels (the "patient journey") with perplexing obstacles.High demand for headache care, estimated here in a needs-assessment exercise, is the biggest of the challenges to reform. It is also the principal reason why reform is necessary.The structured headache services model presented here by experts from all world regions on behalf of the Global Campaign against Headache is the suggested health-care solution to headache. It develops and refines previous proposals, responding to the challenge of high demand by basing headache services in primary care, with two supporting arguments. First, only primary care can deliver headache services equitably to the large numbers of people needing it. Second, with educational supports, they can do so effectively to most of these people. The model calls for vertical integration between care levels (primary, secondary and tertiary), and protection of the more advanced levels for the minority of patients who need them. At the same time, it is amenable to horizontal integration with other care services. It is adaptable according to the broader national or regional health services in which headache services should be embedded.It is, according to evidence and argument presented, an efficient and cost-effective model, but these are claims to be tested in formal economic analyses.

Melkersson-Rosenthal syndrome misdiagnosed as recurrent Bell's palsy: a case report and review of literature.

BACKGROUND: Melkersson-Rosenthal syndrome (MRS) is a rare neuro-mucocutaneous disorder of unknown cause, clinically characterized by a triad of recurrent facial palsy, orofacial swelling, and fissured tongue. It is frequently seen in females in their second and third decades of life. MRS is diagnosed based on clinical features and it is rarely possible to observe all the classical triad symptoms at the same time. The disorder may cause recurring peripheral facial palsy that is wrongly diagnosed as recurrent Bell's palsy CASE PRESENTATION: A 25-year-old female patient was presented to the neurology clinic of Tikur Anbessa Specialized Hospital in Addis Ababa complaining of recurrent left-side peripheral facial weakness, facial swelling and fissured tongue of 5 days duration. Her past medical history was positive for similar symptoms, for which she was diagnosed with Bell's palsy and received oral corticosteroid treatment. On examination left side lower facial swelling with flat naso-labial fold and fissured tongue were identified. After excluding other mimickers, she was diagnosed with Melkersson-Rosenthal syndrome and completely recovered with high dose of corticosteroid treatment. CONCLUSION: Melkersson-Rosenthal syndrome may present with the classic triads of symptoms, but mostly it shows an incomplete clinical pattern. Therefore, when clinicians including allergists encountered patients with facial swelling and facial palsy, they should have to consider MRS in their differential diagnosis and specifically assess for recurrent facial palsy and fissured tongue. Unlike true angioedema, the facial swelling in MRS often develops gradually and it might cause permanent swelling with cosmetic disfigurement from multiple relapses, which can be prevented by early detection and timely initiation of treatment.

Data set for demography, clinical characteristics, and risk factors of trigeminal neuralgia patients in Addis Ababa, Ethiopia.

OBJECTIVES: Pain is one of the most ignored clinical symptoms in resource limited country such as Ethiopia. Trigeminal neuralgia (TN) is one of the most painful medical illnesses known to human. Very little was reported about TN from the sub Saharan Africa (SSA), especially from Ethiopia. We aimed to study the demographic, clinical characteristics, and risk factors of TN in sixty-one patients at two public and two private health facilities in Addis Ababa Ethiopia. These data will be vital to researchers and clinicians interested in knowing the pattern of TN in SSA in order to compare and contrast with similar data from the west. DATA DESCRIPTION: The data set contains characteristics of TN patients. All the variables in the data set were coded by self-explanatory codes. The data set contains: demographic data, which contains age ranges and duration of illness; clinical characteristics data contains clinical characteristics, and risk factors includes such as structural brain abnormalities, family history, and dental extraction. Nearly 90% of the patients had Classical TN. The right side and mandibular branch of trigeminal nerve was commonly involved. Close to 40% reported previous tooth extraction history. Majority of the patients reported satisfactory pain control with carbamazepine.

The prevalence of headache disorders in children and adolescents in Ethiopia: a schools-based study.

BACKGROUND: The Global Burden of Disease (GBD) study establishes headache as the second-highest cause of disability worldwide. Because most headache data in GBD are from adults, leading to underestimation of headache-attributed burden, a global schools-based programme within the Global Campaign against Headache is contributing data from children (7-11 years) and adolescents (12-17 years). This national study in Ethiopia is the first in this programme reported from sub-Saharan Africa. METHODS: A cross-sectional survey following the generic protocol for the global study was conducted in six schools (urban and rural), in Addis Ababa city and three regions of Ethiopia. Structured questionnaires were self-completed under supervision by pupils within their classes. Headache diagnostic questions were based on ICHD-3 beta criteria but for the inclusion of undifferentiated headache (UdH). RESULTS: Of 2349 potential participants, 2344 completed the questionnaire (1011 children [43.1%], 1333 adolescents [56.9%]; 1157 males [49.4%], 1187 females [50.6%]), a participation proportion of 99.8%. Gender- and age-adjusted 1-year prevalence of headache was 72.8% (migraine: 38.6%; tension-type headache: 19.9%; UdH: 12.3%; all headache on ≥15 days/month: 1.2%; probable medication-overuse headache: 0.2%). Headache was more prevalent in females (76.2%) than males (71.0%), a finding reflected only in migraine among the headache types. Headache was more prevalent among adolescents (77.6%) than children (68.4%), reflected in all types except migraine, although prevalence of UdH fell sharply after age 14 years to 3.9%. For headache overall, findings matched those in Turkey and Austria, obtained with the same questionnaire, but the high prevalence of migraine, not increasing with age, was surprising. The study highlighted diagnostic difficulties in young people, especially when poorly educated, with migraine diagnoses driven by improbably high proportions reporting nausea (44.8%) and vomiting (28.0%) as usual symptoms accompanying their headaches. CONCLUSIONS: Headache is very common in children and adolescents in Ethiopia. This has major public-health implications, since half the country's population are aged under 18 years.

Clinical characteristics and associated factors of trigeminal neuralgia: experience from Addis Ababa, Ethiopia.

BACKGROUND: Trigeminal neuralgia (TN) is considered one of the most painful illnesses known to medical practice. Little is known about TN in Ethiopia. Our study aimed to assess clinical characteristics, treatment, and associated factors of TN. METHOD: A cross-sectional study was conducted on a total of 61 patients with confirmed Trigeminal neuralgia visiting outpatient neurology clinics of two government teaching Hospitals and two private health facilities in Addis Ababa, Ethiopia between June 2019 and March 2020. RESULTS: Our participants' age range between 21 and 78 years with mean ± SD age of 50.7 ± 14.2 years. Males accounted for 50.8%. Twenty-five (41%) reported a prior history of one or more tooth extraction on the painful side. In the majority (68.9%) of the patient's right side of the face was affected. The mandibular nerve was the commonly involved branch (47.5%). Fifty-five (90.2%) of patients fulfilled criteria for classical TN and 9.8% had symptomatic TN. The majority of the participants reported mixed types of pain such as burning, lancinating, and electric shock-like. Well defined trigger zone was identified in one-third (36%) of cases. Carbamazepine was the most commonly prescribed drug with a median dose of 600 mg (IQR: 400 - 1000 mg). Two-third of the patients reported prominent satisfaction. The mean (± SD) dose of carbamazepine used to control the pain was significantly higher among those with dental extraction history as compared to those with no history of dental extraction (736 ± 478.6 mg Vs 661.1 ± 360.4 mg, respectively, T = - 2.06, p = 0.04 95% CI:-213.41 to - 2.98). A statistically significant number of patients who had single branch involvement reported prominent satisfaction with their treatment as compared to those who had more than one branch involvement. (95% CI: 1.3-3.8: p = 0.006). CONCLUSION: The majority of our patients had Classical TN in the mandibular nerve distribution on the right side of the face and well satisfied with carbamazepine only treatment. Furthermore, we observed a higher proportion of dental extraction among our patients, hinting at the scale of miss and delayed-diagnoses. Thus, we recommend conducting a well-designed prospective study to support our findings.

The frequency and impact of admission hyperglycemia on short term outcome of acute stroke patients admitted to Tikur Anbessa Specialized hospital, Addis Ababa, Ethiopia: a cross-sectional study.

BACKGROUND: Admission hyperglycemia (HG) has been associated with worse outcomes among acute stroke patients. A better understanding and awareness of the potentially adverse influence of hyperglycemia on the clinical outcome of acute stroke patients would help to provide guidance for acute stroke management and prevention of its adverse outcomes. We aimed to assess the frequency of admission hyperglycemia and its impact on short term (30-days) morbidity and mortality outcomes of stroke in adult Ethiopian patients in an urban setting. METHODS: A prospective, cross-sectional study was conducted among acute stroke patients admitted to Tikur Anbessa Specialized Hospital (TASH), within 72 h of symptom onset, from July to December 2016. Socio-demographic data, neuroimaging findings and capillary blood glucose values were obtained on admission. Hyperglycemia was defined as > 140 mg/dl. National Institute of Health Stroke Scale (NIHSS) and modified Rankin Scale (mRS) were used to assess the baseline stroke severity and the 30-days post-stroke outcome, respectively. RESULTS: A total of 103 first-ever acute stroke patients were included (mean age = 55.5 + 15.3 years, 64.1% male and 65% under the age of 65 years) and 51 (49.5%) were hyperglycemic at time of admission. The median admission NIHSS score was worse in the hyperglycemic patients 14 (IQR 10-19) compared to normoglycemic patients 11 (IQR 8-15). Among stroke survivors, patients with hyperglycemia were 3.83 times (95% CI, 1.99-6.19) more likely to be functionally impaired (mRS = 3-5) at 30-days compared to normoglycemic patients (P = 0.041).Older age (≥ 65 years) (P = 0.017) and stroke severity (NIHSS > 14) (P = 0.006) at admission were both significantly associated with poor functional recovery at 30-day. Among patients who died at 30-day, two-third (66.7%) were hyperglycemic but they failed to show any significant association. CONCLUSIONS: Hyperglycemia is prevalent among Ethiopian stroke patients at the time of presentation and it is associated with significantly poor functional recovery at 30th-day of follow up. This finding provides a rationale for achieving normal blood glucose in the course of acute stroke management which could have a favorable impact on the neurological outcome and quality of life for patients.

DYKE-DAVIDOFF-MASSON SYNDROME-A Rare Cause of Cerebral Hemiatrophy in a 17-Years-Old Ethiopian Patient: A Case Report.

BACKGROUND: Dyke-Davidoff-Masson syndrome (DDMS) is a rare disease with unknown frequency, mainly presented with seizures, facial asymmetry, contralateral hemiparesis and mental retardation. Often, resulting from brain injury due to a multitude of causes, especially in early life, associated with birth asphyxia. Radiological findings include cerebral hemiatrophy/hypoplasia, calvarial thickening, and hyperpneumatization of the frontal sinuses. CASE PRESENTATION: We report the case of a 17-year-old male patient who presented to Neurology Clinic with complaints of left side body weakness, walking difficulty and poorly controlled seizure for the past 6 years. Brain MRI revealed atrophy of the right cerebral hemisphere. CONCLUSION: Dyke-Davidoff-Masson syndrome should be suspected in any patients who present with classical features and brain imaging showing hemiatrophy. Early identification and treatment is important in such patients, as it can improve patients prognosis and quality of life.