Search

Introduction. The stiff-person syndrome (SPS) is a rare disease whose incidence is estimated at approximately 1 in a million individuals in the general population. Diagnosis relies on a combination of clinical, immunological, and electromyographic items. We present the case of a patient diagnosed with the idiopathic SPS, initially misdiagnosed as focal paravertebral myositis. Case presentation. A 36-year-old patient was referred to us for the investigation of subacute dorsal myalgias. The patient reported a severe torticollis seven months ago, which resolved spontaneously after one month, and some episodes of back stiffness. On examination, the patient was afebrile, had hyperlordosis with a paravertebral contracture and tenderness. Neurological and cognitive examinations were normal. C-reactive Protein was at 137 mg/l. The rest of laboratory investigations, including creatine phosphokinase (CPK), were within normal range. Spinal MRI revealed T2 hyperintensity in the semispinalis muscle, erector spinae muscle, trapezius muscle, as well as the intervertebral muscles. Therefore, focal paravertebral myositis was suspected. The electromyogram (EMG) revealed the presence of a continuous motor unit activity in agonist and antagonist muscles, suggestive of stiff-person syndrome. Antinuclear antibodies, anti-glutamic acid decarboxylase 65 and onconeuronal antibodies were negative. Analysis of the cerebrospinal fluid, including anti-glutamic acid decarboxylase 65 test, was normal. We noticed that the paravertebral contracture became less noticeable when the patient was commenced on diazepam. Diagnosis of SPS was established according to Dalakas criteria. Investigations for an underlying neoplasm, were normal. Associated autoimmune disorders have been ruled out. The MRI description was rather explained by the continuous contraction of the affected muscles. Treatment included diazepam, baclofen, intravenous immunoglobulin and corticosteroids. The patient showed important signs of improvement. Conclusion. SPS is a rare condition whose diagnosis can be delayed. Recognizing and managing SPS as early as possible is crucial. It is based on clinical reasoning, imaging, biological features and EMG.

Introduction. Polyautoimmunity refers to the phenomenon where an individual is affected by multiple autoimmune diseases simultaneously. This condition underscores the complexity of autoimmune disorders and their interconnected nature, often resulting from shared genetic predispositions and overlapping immunological mechanisms. In this report, we present a case that exemplifies the coexistence of myasthenia gravis, scleroderma, and anti-synthetase syndrome in a female patient. The combination of these three distinct autoimmune conditions highlights the challenges faced by clinicians in diagnosis and management. We herein report a case that illustrates the coexistence of myasthenia, scleroderma and anti-synthetase syndrome in a female patient. Case description. A 45-year-old female patient was referred for systemic sclerosis, without respiratory or muscular involvement. Two years later, she presented with dyspnea and muscle fatigue. She had mechanic’s hands and bilateral symmetric proximal muscle weakness. Laboratory investigations revealed CK levels at 995 IU/L and positive anti-PL7 antibodies. Thoracic CT showed diffuse interstitial lung disease. Spirometry demonstrated a restrictive lung disease. The electroneuromyogram (ENMG) showed a myopathic pattern. Diagnosis of anti-synthetase syndrome was established. Treatment was initiated with monthly cyclophosphamide infusions. Seven months later, she presented with left ptosis and worsening dyspnea and muscle fatigue. An intravenous immunoglobulin infusion was administered, than the patient was commenced on mycophenolate mofetil. She showed a slight improvement, than she developed dysphagia. Brain MRI and cerebrospinal fluid were normal. Onconeuronal antibodies were negative. The ENMG did not reveal any decrement, but the acetylcholine receptor antibody level was positive at 1.12 nmol/L. Consequently, with the presence of ptosis, dysphonia and dysphagia, the diagnosis of myasthenia gravis was established. Imaging did not reveal a thymoma. A favorable therapeutic response was achieved with intravenous immunoglobulins and pyridostigmine. Conclusions. Patients with autoimmune diseases necessitate meticulous management and monitoring because they are at risk for developing multiple immune-mediated disorders, either simultaneously or in succession over the course of their illness. This phenomenon, known as polyautoimmunity, can complicate the clinical picture, as overlapping symptoms and disease manifestations may make diagnosis challenging.

Despite the availability of an effective vaccine for several decades, the measles virus continues to spread worldwide. From 2018 to 2019, several countries experienced large measles outbreaks with genotype B3, including Tunisia. We analyzed 66 samples collected from serologically confirmed measles cases during this outbreak. Fifty-five percent were aged less than 12 months and had not received a measles vaccine. Phylogenetic analysis using the 450 nucleoprotein (N450) window revealed that all strains belonged to genotype B3, with five different variants identified. The N450 sequence of the predominant one, which circulated all through the epidemic period, was identical to the named strain MVs/Kabul.AFG/20.14/3. For better molecular discrimination, the amplification and sequencing of 1018 nucleotides in the non-coding region between the M and F genes (MF-NCRs) revealed higher variability with at least nine clusters. A phylogeographic study using Bayesian methods suggested the Governorate of Kasserine (on the borders of Algeria) as the introduction point with a TMRCA (Time to Most Recent Common Ancestor) for the 2019 sequences estimated around October 2018. These findings emphasize the crucial role of advanced molecular investigations in tracing measles transmission pathways which, together with good vaccine coverage, will help the final success of the global measles elimination program.

Abstract The interaction between the receptor-binding domain (RBD) of the SARS-CoV-2 spike glycoprotein and the ACE2 enzyme is believed to be the entry point of the virus into various cells in the body, including the lungs, heart, liver, and kidneys. The current focus of several therapeutic design efforts explores attempts at affecting the binding potential between the two proteins to limit the activity of the virus and disease progression. In this work, we analyze the stability of the spike protein under all possible single-point mutations in the RBD and computationally explore mutations that can affect the binding with the ACE2 enzyme. We unravel the mutation landscape of the receptor region and assess the toxicity potential of single and multi-point mutations, generating insights for future vaccine efforts on mutations that might further stabilize the spike protein and increase its infectivity. We developed a tool, called SpikeMutator, to construct full atomic protein structures of the mutant spike proteins and shared a database of 3800 single-point mutant structures. We analyzed the recent 65,000 reported spike sequences across the globe and observed the emergence of stable multi-point mutant structures. Using the landscape, we searched through 7.5 million possible 2-point mutation combinations and report that the (R355D K424E) mutation produces one of the strongest spike proteins that therapeutic efforts should investigate for the sake of developing effective vaccines.

Abstract Background and study aims The success of conversion total hip arthroplasty (THA) among primary THA and revision THA remains unclear. We hypothesized that most conversion THA’s can be performed using primary implants and will have an uncomplicated post-operative course. Materials and methods Thirty-six patients (23 females, mean age 68,0y) who underwent conversion THA for failed interventions for proximal femur fractures in the period 2008–2018 were matched sequentially against patients of the same sex and age who underwent primary THA or revision THA. Data were collected on implants used, major complications, and mortality. PROMs used included the Western Ontario and McMaster Osteoarthritis Index, Harris Hip Score, Visual Analogue Scale and the EQ-5D Health Questionnaire. Results Seventy-two percent of patients who underwent conversion THA were treated with primary implants and never suffered from a major complication. PROMs were excellent for this group of patients. The distinction primary/conversion/revision THA could not explain differences in outcomes; however, the necessity of using revision implants and the development of major complications could. Conclusions The majority of conversion total hip arthroplasties can be considered a primary replacement. Predicting outcomes for THA should focus on patient frailty and technical difficulties dealing with infection, stability and loss of bone stock and should discard the conversion versus revision terminology.

Abstract The gastric location of EBVMCU is extremely rare. The pathology examination and immunochemistry are mandatory for the diagnosis. It is essential that physicians be aware of this new entity to accurately diagnose and handle this disease.

Abstract Clear cell sarcoma of the esophagus is very rare. The etiology of this neoplasm remains unknown. Confirmed diagnosis requires histopathology with immunochemistry and molecular study. CCS typically shows highly aggressive behavior with a high rate of local recurrence, metastases, and death from disease.

Cold agglutinin are erythrocyte antibodies which possess the property of agglutinating red blood cells at temperatures of below 37°C, this phenomenon is reversible after heating. This is usually immunoglobulin M (IgM) class. Their pathogenicity is much more related to their temperature range of activity than their title. As we report in this observation, cold hemagglutination makes it difficult to interpret certain immunological tests such as ABO Rh blood grouping or searching for irregular antibodies (SAI). The discovery of cold agglutinins can be fortuitous revealing itself by disturbances and aberrations in the results of blood count or as part of a suggestive clinical or laboratory table cold hemagglutinin disease. The search for a lymphoid hematological at their diagnosis should be systematic.

Oculo-orbital non-Hodgkin lymphoma is a rare presentation of lymphoma. The objective of our study was to clarify the clinical features of non-Hodgkin´s oculo-orbital malignant lymphoma and to establish the place of radiotherapy in the treatment. This is a retrospective study including 9 patients treated at the Salah Azaiez Institute between 2007 and 2018. There were 5 women for 4 men with an average age of 65 years. Four LMNHs were located on the right, three on the left and two bilateral. The time between the appearance of functional signs and the diagnosis was less than 6 months. The diagnosis is confirmed by biopsy, resulting in several histological varieties. A full extension assessment was performed in all patients. Muscle and/or optic nerve extension was noted in 6 patients and bone damage was observed in two patients. Six patients had chemotherapy. The 9 patients were treated with orbital radiotherapy with a dose that varied between 30.6 and 40 Gy. The duration of patient follow-up was from 2 months to 10 years. Seven patients were in complete remission. Two patients had insufficient follow-up and one patient died one month after the end of treatment. The interest of radiotherapy in oculo-orbital LMNH has been clearly demonstrated in several studies, but its place, its methods and its tolerance profile remain to be defined in many situations.

The stomach is the most frequent site of extranodal lymphoma. Mucosa-associated lymphoid tissue (MALT) lymphoma is a low-grade, B-cell neoplasm strongly associated with Helicobacter pylori (HP) infection. The presenting complaints of gastric MALT lymphoma are usually nonspecific. HP eradication is regarded as the first-line therapy in early stage disease. Management of patients who failed to achieve remission following HP eradication include chemotherapy, radiotherapy and in selected cases, surgery. The aim of the present study was to examine the clinical characteristics and treatment outcome of patients with gastric MALT lymphoma.

La rareté actuelle des manifestations ostéoarticulaires de la syphilis tend à faire oublier et méconnaître certains aspects autrefois banals de l´affection. L´arthropathie tabétique, affection neurogène destructrice, est due à une perte de l´innervation douloureuse et proprioceptive. Elle est devenue exceptionnelle grâce au traitement précoce de la syphilis par la pénicilline. Nous rapportons le cas d´un patient de 58 ans, consultant pour une monoarthrite du genou révélant d´une arthopathie tabétique.

L´arthropathie tabétique est une affection neurogène destructrice, actuellement rare grâce au traitement précoce de la syphilis par la pénicilline G. Le germe en cause est treponema pallidum. Le diagnostic est évoqué devant la discordance entre l´importance de l´atteinte articulaire et l´absence de la douleur. La confirmation est biologique par la positivation des sérologies syphilitiques. Patient de 58 ans, ayant comme antécédent un chancre syphilitique à deux reprises, consultant pour une monarthrite chronique du genou gauche sans douleur. La radiographie du genou a montré une destruction de la cotyle tibiale interne et au scanner la présence des lésions d´ostéolyses des deux plateaux tibiaux et des épines tibiales avec détachement des fragments osseux. Le diagnostic a été confirmé par la positivation des sérologies syphilitiques dans le sang et le liquide céphalo-rachidien (LCR). L´évolution était marquée par le décès du patient par un sepsis suite à une infection nosocomiale. Même si elle est devenue exceptionnelle, l´arthropathie tabétique ne doit pas être méconnue. Son traitement repose sur la pénicilline G en intraveineuse.

Giant squamous cell carcinomas (SCC) larger than 5 cm in diameter are uncommon; there is no guideline on the size of an SCC that is considered giant. Treatment may be difficult with the need for large tissue resections and complex surgical reconstruction. We report a rare case of giant squamous cell carcinoma of the shoulder attached to deep anatomic planes. The entire mass was removed, resulting in a large defect that was repaired with myocutaneous flap rotation of the latissimus dors. Three courses of radiotherapy were performed after surgery. Fifteen months after the operation, the patient is well and working without any local recurrence and metastasis.

Primary localised bone lymphoma is a rare affection prevalent in humans. It often involves long bones, but can be found in all the skeleton bones. The diagnosis is based on the anatomopathological study with immunohistochemical study of a bone biopsy. Treatment is based on chemotherapy (with or without anti-CD20) followed by radiotherapy. The prognosis of primary localised bone lymphoma is very favorable. We also report the first diagnosed case of primary bone lymphoma of the humerus since the inauguration of our university hospital (since September 2014).

La péritonite infectieuse (PI) chez les patients sous dialyse péritonéale (DP) est responsable d´une lourde morbi-mortalité et d´un risque accru de passage à l´hémodialyse. Afin de déterminer le profil bactériologique des PI chez cette population vulnérable, nous avons mené une étude rétrospective sur les liquides péritonéaux envoyés au Laboratoire de Microbiologie du CHU Hassan II de Fès, entre 2012-2019. Trente cinq (35) épisodes de péritonites chez 24 patients étaient identifiés. Pour chaque épisode, nous avons analysé le nombre de globules blancs, la coloration de Gram, le résultat de la culture et l´antibiogramme. Les bactéries à Gram + étaient les plus isolées (55,55% des cas) avec une prédominance du Staphylocoque aureus (80%), suivies des Gram - (33,33% des cas) représentés uniquement par les entérobactéries. La majorité des souches isolées étaient de phénotype sauvage. Nous avons noté un taux élevé de péritonites aseptiques (82,69%) dans notre série, d´où la difficulté d´interprétation des résultats. Cette prédominance pourrait être attribuée aux particularités microbiologiques des liquides péritonéaux chez cette population, exigeant ainsi l´utilisation de techniques sensibles et fiables, notamment l´ensemencement du liquide dans deux flacons d´hémoculture (aérobie, anaérobie).

Sclerosing Epithelioid Fibrosarcoma (SEF) is a rare form of soft tissue sarcoma. It is characterized by a slow evolution, with local recurrences and late metastases that are mainly pulmonary and pleural in about 50% of cases. The treatment is based on the surgery which must be as wide as possible. The efficacy of adjuvant therapy in the control of SEF is not yet demonstrated. Chemotherapy is used in recurrences, some have also proposed radiotherapy. Long-term follow-up of patients with SEF is therefore essential.

Les groupes sanguins érythrocytaires sont définis comme l´ensemble des variations allotypiques génétiquement transmises, détectées par des anticorps à la surface de la membrane érythrocytaire. La distribution des allèles du système dans le monde a été largement étudiée. Elle est souvent associée d´une part, à l´évolution des structures génétiques des populations humaines et d´autre part, à la sélection naturelle. L´objectif de notre travail est de présenter de nouvelles statistiques nationales des prévalences phénotypiques et des prévalences génotypiques des systèmes ABO et Rhésus (D) utilisant un nouvel échantillon chez la population marocaine. Cette étude a été réalisée dans le Service de Transfusion de l´Hôpital Militaire Avicenne de Marrakech sur un échantillon de 13465 jeunes recrus prélevés entre le 1er janvier 2015 et le 31 décembre 2018. Il s´agit d´une population militaire de différentes régions du Maroc, formée de 98% d´hommes et de 2% de femmes, dont les âges se situaient entre 18 et 21 ans. Le groupe O se trouvait chez environ la moitié des personnes phénotypes soit 49,01%, le groupe A chez 31,47%, le groupe B chez 15,15% et le groupe AB avait la fréquence la plus faible soit 4,35%. Nous avons constaté une nette prédominance des sujets Rh positifs (89,86%) par rapport aux sujets Rh négatifs (10,13%) dans notre population marocaine. En ce qui concerne la fréquence des génotypes de notre population nous avons eu les résultats suivants : l´allèle O est le plus fréquent, sa prévalence était de 89,82% ; l´allèle A venait en seconde position avec une fréquence de 19, 90% ; l´allèle B était le moins fréquent avec 10, 28%. L´allèle du D (RH1) (68,17%) était dominant par rapport à l´allèle d (RH-1) (31,82%). Nos résultats sont comparés à des études similaires antérieures réalisées au Maroc et d´autres pays. Ces résultats sont identiques à ceux trouvés dans les pays méditerranéens et montrent que le Maroc est en situation intermédiaire entre les pays d´Europe et ceux de l´Afrique noir

Abstract Background Cellular cobalamin defects are a locus and allelic heterogeneous disorder. The gold standard for coming to genetic diagnoses of cobalamin defects has for some time been gene-by-gene Sanger sequencing of individual DNA fragments. Enzymatic and cellular methods are employed before such sequencing to help in the selection of the gene defects to be sought, but this is time-consuming and laborious. Furthermore some cases remain undiagnosed because no biochemical methods have been available to test for cobalamin absorption and transport defects. Results This paper reports the use of massive parallel sequencing of DNA (exome analysis) for the accurate and rapid genetic diagnosis of cobalamin-related defects in a cohort of affected patients. The method was first validated in an initial cohort with different cobalamin defects. Mendelian segregation, the frequency of mutations, and the comprehensive structural and functional analysis of gene variants, identified disease-causing mutations in 12 genes involved in the absorption and synthesis of active cofactors of vitamin B12 (22 cases), and in the non-cobalamin metabolism-related genes ACSF3 (in four biochemically misdiagnosed patients) and SUCLA2 (in one patient with an unusual presentation). We have identified thirteen new variants all classified as pathogenic according to the ACGM recommendation but four were classified as variant likely pathogenic in MUT and SUCLA2. Functional and structural analysis provided evidences to classify them as pathogenic variants. Conclusions The present findings suggest that the technology used is sufficiently sensitive and specific, and the results it provides sufficiently reproducible, to recommend its use as a second-tier test after the biochemical detection of cobalamin disorder markers in the first days of life. However, for accurate diagnoses to be made, biochemical and functional tests that allow comprehensive clinical phenotyping are also needed.

Ischemic stroke can result from multiple etiologies. It can also be a complication of tuberculous meningoencephalitis and determine its outcome. stroke secondary to tuberculous meningoencephalitis, occurs in 30% cases in the basal ganglia region, unusually in the thalamus. The mechanism of stroke in this condition is vasculitis. We report an unusual case of bilateral thalamic infarcts complicating tuberculous meningoencephalitis. Ischemic stroke in tuberculous meningoencephalitis is unpredictable with poor prognosis despite antituberculous drug treatment, emphasising the importance of primary prevention, particularly in tuberculosis endemic areas.

Un patient de 45 ans a subi un traumatisme du genou droit à la suite d'un accident de la voie publique occasionnant chez lui une fracture distale supra condylienne comminutive du fémur droit et une rupture du tendon rotulien ipsilatérale. Cette association est exceptionnelle et aucun cas n'a été retrouvé dans la littérature. Un diagnostic précis clinique et radiologique suivi d'une prise en charge précoce et adaptée par une ostéosynthèse interne et une rééducation fonctionnelle précoce et adaptée ont permis d'obtenir de bons résultats à long terme.

Extra-osseous chondroma is a benign and rare tumor. It usually sits at the extremities, we report an exceptional case of a chondroma of the soft parts of the shoulder in a 28 year old woman who manifested by a painless swelling of the left shoulder. The histology confirmed the diagnosis on the excision piece. Clinical and radiological follow-up after a 24-month follow-up did not show a sign of recurrence.

Les lymphomes pulmonaires primitifs sont des tumeurs rares représentant moins de 1% des tumeurs malignes du poumon. La forme la plus fréquente est le lymphome de type Mucosa-Associated Lymphoid Tissue (MALT). L'atteinte oculaire est aussi rare et elle est dans la plupart du temps localisée dans les glandes lacrymales. Nous rapportons l'observation d'un patient ayant présenté un lymphome pulmonaire de type MALT associé à une atteinte synchrone des glandes lacrymales. Cette observation illustre les aspects cliniques, radiologiques et évolutifs de cette entité qui sont peu spécifiques.

Introduction: Toxoplasma infection is considered as the most frequent infection in both animals and humans. It is due to protozoan parasite belonging to phylum of Apicomplexa, Toxoplasma Gondiiwhich can have severe congenital consequences if acquired in pregnancy. Material and methods: In this prospective study, toxoplasmosis seroprevalence was searched in asymptomatic pregnant women attending the central laboratory of university hospital center Hassan II of Fes city between 2010 and 2015. Samples are treated by chemiluminescent microparticle immunoassay. Results: In our study the rate of IgG anti-toxoplasma was 39.7% which is close to other Moroccan cities and different from Europe. Conclusion: The variances in prevalence between different region is related to different factors such as habit of eating, contact with cat and mediocre sanitation and hand hygiene.

La maladie de Freiberg est une ostéochondrose des têtes métatarsiennes, touchant le plus fréquemment la deuxième tête. Les auteurs rapportent à travers une étude rétrospective étalée sur trois ans, une série de 06 patientes, dont l'âge moyen est de 19,8 ans, opérées par une ostéotomie de soustraction dorsale selon Gauthier avec une fixation par des ostéosutures. Les résultats de cette technique sont satisfaisants vue que la majorité de nos patientes ont retrouvé l'indolence et ont récupéré une activité quotidienne habituelle. Les auteurs ont conclu que la fixation par des ostéosutures est une méthode fiable et peu coûteuse.

Bovine tuberculosis (BTB) and brucellosis are major endemic zoonoses in ruminants in Morocco that impact on both animal and human health. This study presents an assessment of the epidemiological and socioeconomic burden of bacterial zoonoses in Sidi Kacem Province in Northern Morocco from a cross-sectional survey of 125 cattle and/or small ruminant-owning households. In total, 1082 sheep and goats were examined from 81 households. The single intradermal comparative cervical test to screen for bovine tuberculosis was undertaken on 1194 cattle from 123 households and all cattle were blood sampled. Cattle and small ruminant sera were tested for brucellosis using the standard Rose Bengal Test (sRBT) and the modified Rose Bengal Test (mRBT). Bacteriology was performed on 21 milk samples obtained from cattle that were seropositive for brucellosis for isolation and phenotyping of circulating Brucella strains. Individual and herd prevalence for BTB in cattle of 20.4% (95% CI 18%-23%) and 57.7% (95% CI 48%-66%), respectively, were observed in this study. The prevalence of brucellosis in cattle at individual and herd level was 1.9% (95% CI 1.2%-2.8%) and 9% (95% CI 4.5%-1.5%), respectively. Brucella pathogens were isolated from three cattle milk samples and were identified as B. abortus using Bruceladder® multiplex PCR and B. abortus biovar 1 by classical phenotyping. All small ruminants were seronegative to sRBT, two were positive to mRBT. A higher risk of BTB and brucellosis was observed in cattle in intensive livestock systems, in imported and crossed breeds and in animals from larger herds (>15). The three risk factors were usually present in the same herds, leading to higher transmission risk and persistence of both zoonoses. These results highlight the importance of implementing control strategies for both BTB and brucellosis to reduce productivity losses and the risk of transmission to humans. Prioritising control for BTB and brucellosis in intensive livestock production systems is essential for human and animal health.

La rupture bicroisée est rare, des deux LCA simultanément est exceptionnelle, alors que la rupture bicroisée bilatérale simultanée et post-traumatique n'a été jamais décrite dans la littérature, ce qui rend notre cas très intéressant pour étude, suivi et discussion thérapeutique puisqu'on a privilégié la prise en charge thérapeutique en deux temps opératoires espacés dans le temps et nos résultats étaient très satisfaisantes aussi bien pour nous que pour le malade.

The most common cause of the monogenic form of Parkinson's disease known so far is the G2019S mutation of the leucine-rich repeat kinase 2 (LRRK2) gene. Its frequency varies greatly among ethnic groups and geographic regions ranging from less than 0.1% in Asia to 40% in North Africa. This mutation has three distinct haplotypes; haplotype 1 being the oldest and most common. Recent studies have dated haplotype 1 of the G2019S mutation to about 4000 years ago, but it remains controversial whether the mutation has a Near-Eastern or Moroccan-Berber ancestral origin. To decipher this evolutionary history, we genotyped 10 microsatellite markers spanning a region of 11.27 Mb in a total of 57 unrelated Moroccan PD patients carrying the G2019S mutation for which the Berber or Arab origin was established over 3 generations based on spoken language. We estimated the age of the most recent common ancestor for the 36 Arab-speaking and the 15 Berber-speaking G2019S carriers using the likelihood-based method with a mutation rate of 10-4. Data analysis suggests that the shortest haplotype originated in a patient of Berber ethnicity. The common founder was estimated to have lived 159 generations ago (95% CI 116-224) for Arab patients, and 200 generations ago (95% CI 123-348) for Berber patients. Then, 29 native North African males carrying the mutation were assessed for specific uniparental markers by sequencing the Y-chromosome (E-M81, E-M78, and M-267) and mitochondrial DNA (mtDNA) hypervariable regions (HV1 and HV2) to examine paternal and maternal contributions, respectively. Results showed that the autochthonous genetic component reached 76% for mtDNA (Eurasian and north African haplogroups) and 59% for the Y-chromosome (E-M81 and E-M78), suggesting that the G2019S mutation may have arisen in an autochthonous DNA pool. Therefore, we conclude that LRRK2 G2019S mutation most likely originated in a Berber founder who lived at least 5000 years ago (95% CI 3075-8700).