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  1. Artikel ; Online: The First Case of Huntington's Disease like 2 in Mali, West Africa.

    Bocoum, Abdoulaye / Ouologuem, Madani / Cissé, Lassana / Essop, Fahmida / Dit Papa Coulibaly, Souleymane / Botha, Nadine / Cissé, Cheick A K / Dit Baneye Maiga, Alassane / Krause, Amanda / Landouré, Guida

    Tremor and other hyperkinetic movements (New York, N.Y.)

    2024  Band 14, Seite(n) 15

    Abstract: Background: Huntington's disease like 2 (HDL2) has been reported exclusively in patients with African ancestry, mostly originating from South Africa.: Case report: We report three patients in Mali including a proband and his two children who have ... ...

    Abstract Background: Huntington's disease like 2 (HDL2) has been reported exclusively in patients with African ancestry, mostly originating from South Africa.
    Case report: We report three patients in Mali including a proband and his two children who have been examined by neurologists and psychiatrists after giving consent. They were aged between 28 and 56 years old. Psychiatric symptoms were predominant in the two younger patients while the father presented mainly with motor symptoms. Genetic testing identified a heterozygous 40 CTG repeat expansion in the Junctophilin-3 (JPH3) gene in all three patients.
    Discussion: This study supports the hypothesis that HDL2 may be widely spread across Africa.
    Highlights: We report here the first case of HDL2 in West Africa, suggesting that HDL2 is widely spread across African continent, and increasing access to genetic testing could uncover other cases.
    Mesh-Begriff(e) Child ; Humans ; Adult ; Middle Aged ; Mali ; Huntington Disease/genetics ; Family ; Genetic Testing ; Heterozygote
    Sprache Englisch
    Erscheinungsdatum 2024-04-02
    Erscheinungsland England
    Dokumenttyp Case Reports
    ZDB-ID 2674453-3
    ISSN 2160-8288 ; 2160-8288
    ISSN (online) 2160-8288
    ISSN 2160-8288
    DOI 10.5334/tohm.859
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  2. Artikel ; Online: AP2A2 mutation and defective endocytosis in a Malian family with hereditary spastic paraplegia.

    Diarra, Salimata / Ghosh, Saikat / Cissé, Lassana / Coulibaly, Thomas / Yalcouyé, Abdoulaye / Harmison, George / Diallo, Salimata / Diallo, Seybou H / Coulibaly, Oumar / Schindler, Alice / Cissé, Cheick A K / Maiga, Alassane B / Bamba, Salia / Samassekou, Oumar / Khokha, Mustafa K / Mis, Emily K / Lahkani, Saquib A / Donovan, Frank X / Jacobson, Steve /
    Blackstone, Craig / Guinto, Cheick O / Landouré, Guida / Bonifacino, Juan S / Fischbeck, Kenneth H / Grunseich, Christopher

    Neurobiology of disease

    2024  , Seite(n) 106537

    Abstract: Hereditary spastic paraplegia (HSP) comprises a large group of neurogenetic disorders characterized by progressive lower extremity spasticity. Neurological evaluation and genetic testing were completed in a Malian family with early-onset HSP. Three ... ...

    Abstract Hereditary spastic paraplegia (HSP) comprises a large group of neurogenetic disorders characterized by progressive lower extremity spasticity. Neurological evaluation and genetic testing were completed in a Malian family with early-onset HSP. Three children with unaffected consanguineous parents presented with symptoms consistent with childhood-onset complicated HSP. Neurological evaluation found lower limb weakness, spasticity, dysarthria, seizures, and intellectual disability. Brain MRI showed corpus callosum thinning with cortical and spinal cord atrophy, and an EEG detected slow background in the index patient. Whole exome sequencing identified a homozygous missense variant in the adaptor protein (AP) complex 2 alpha-2 subunit (AP2A2) gene. Western blot analysis showed reduced levels of AP2A2 in patient-iPSC derived neuronal cells. Endocytosis of transferrin receptor (TfR) was decreased in patient-derived neurons. In addition, we observed increased axon initial segment length in patient-derived neurons. Xenopus tropicalis tadpoles with ap2a2 knockout showed cerebral edema and progressive seizures. Immunoprecipitation of the mutant human AP-2-appendage alpha-C construct showed defective binding to accessory proteins. We report AP2A2 as a novel genetic entity associated with HSP and provide functional data in patient-derived neuron cells and a frog model. These findings expand our understanding of the mechanism of HSP and improve the genetic diagnosis of this condition.
    Sprache Englisch
    Erscheinungsdatum 2024-05-19
    Erscheinungsland United States
    Dokumenttyp Journal Article
    ZDB-ID 1211786-9
    ISSN 1095-953X ; 0969-9961
    ISSN (online) 1095-953X
    ISSN 0969-9961
    DOI 10.1016/j.nbd.2024.106537
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  3. Artikel: Friedreich ataxia in a family from Mali, West Africa/Friedreich ataxia in a Malian family.

    Cissé, Cheick A K / Cissé, Lassana / Ba, Hamidou O / Samassékou, Oumar / Simaga, Assiatou / Taméga, Abdoulaye / Diarra, Salimata / Diallo, Seybou H / Coulibaly, Thomas / Diallo, Salimata / Yalcouyé, Abdoulaye / Maiga, Alassane B / Keita, Mohamed / Fischbeck, Kenneth H / Traoré, Sékou F / Guinto, Cheick O / Landouré, Guida

    Clinical case reports

    2021  Band 9, Heft 5, Seite(n) e04065

    Abstract: Friedreich ataxia is the most common inherited ataxia in the world, but yet to be reported in black African. We report the first genetically confirmed case in a West African family. Studying genetic diseases in populations with diverse backgrounds may ... ...

    Abstract Friedreich ataxia is the most common inherited ataxia in the world, but yet to be reported in black African. We report the first genetically confirmed case in a West African family. Studying genetic diseases in populations with diverse backgrounds may give new insights into their pathophysiology for future therapeutic targets.
    Sprache Englisch
    Erscheinungsdatum 2021-03-24
    Erscheinungsland England
    Dokumenttyp Case Reports
    ZDB-ID 2740234-4
    ISSN 2050-0904
    ISSN 2050-0904
    DOI 10.1002/ccr3.4065
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  4. Artikel ; Online: Clinical and Genetic Aspects of Huntington's Disease in the Malian Population.

    Bocoum, Abdoulaye / Coulibaly, Toumany / Ouologuem, Madani / Cissé, Lassana / Diallo, Seybou H / Maiga, Boubacar B / Dembélé, Kékouta / Diallo, Salimata / Coulibaly, Souleymane Dit Papa / Kané, Fousseyni / Coulibaly, Thomas / Coulibaly, Dramane / Taméga, Abdoulaye / Yalcouyé, Abdoulaye / Diarra, Salimata / Dembélé, Mohamed E / Maiga, Alassane B / Cissé, Cheick A K / Traoré, Oumou /
    Fischbeck, Kenneth H / Guinto, Cheick O / Maiga, Youssoufa / Landouré, Guida

    Journal of Huntington's disease

    2022  Band 11, Heft 2, Seite(n) 195–201

    Abstract: Background: Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder caused by mutation in the HTT gene and characterized by involuntary movements as well as cognitive and behavioral impairment. Since its first description 150 years ...

    Abstract Background: Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder caused by mutation in the HTT gene and characterized by involuntary movements as well as cognitive and behavioral impairment. Since its first description 150 years ago, studies have been reported worldwide. However, genetically confirmed cases have been scarce in Africa.
    Objective: To describe the clinical and genetic aspects of HD in the Malian population.
    Methods: Patients with HD phenotype and their relatives were enrolled after obtaining consent. Symptoms were assessed using the Total Motor Scale (TMS) of the United Huntington's Disease Rating Scale (UHDRS) and the Mini-Mental State Examination (MMSE). Brain imaging and blood tests were performed to exclude other causes. DNA was extracted for HTT sequencing.
    Results: Eighteen patients (13 families) with a HD phenotype were evaluated. A familial history of the disease was found in 84.6% with 55.5% of maternal transmission. The average length of the HTT CAG repeat was 43.6±11.5 (39-56) CAGs. The mean age at onset was 43.1±9.7years. Choreic movements were the predominant symptoms (100% of the cases) with an average TMS of 49.4±30.8, followed by cognitive impairment (average MMSE score: 23.0±12.0) and psychiatric symptoms with 22.2% and 44.4%, respectively.
    Conclusion: This is one of the largest HD cohorts reported in Africa. Increasing access to genetic testing could uncover many other HD cases and disease-modifying genetic variants. Future haplotype and psychosocial studies may inform the origin of the Malian mutation and the impact of the disease on patients and their relatives.
    Mesh-Begriff(e) Brain ; Genetic Testing ; Humans ; Huntingtin Protein/genetics ; Huntington Disease/diagnosis ; Huntington Disease/genetics ; Mali ; Mutation/genetics ; Phenotype
    Chemische Substanzen HTT protein, human ; Huntingtin Protein
    Sprache Englisch
    Erscheinungsdatum 2022-03-20
    Erscheinungsland Netherlands
    Dokumenttyp Journal Article ; Research Support, N.I.H., Intramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 2673033-9
    ISSN 1879-6400 ; 1879-6397
    ISSN (online) 1879-6400
    ISSN 1879-6397
    DOI 10.3233/JHD-220529
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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