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 16...

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Vydané v:	European journal of human genetics : EJHG Ročník 23; číslo 2; s. 271 - 273
Hlavní autori:	Ogun, Shamsideen Abayomi, Martins, Sandra, Adebayo, Philip B, Dawodu, Clara O, Sequeiros, Jorge, Finkel, Michael F
Médium:	Journal Article
Jazyk:	English
Vydavateľské údaje:	England Nature Publishing Group 01.02.2015
Predmet:	Adult African Continental Ancestry Group Ataxia Ataxin-3 Demyelination Dysphagia EMG Epidemiology Female Fibrillation Founder effect Gait Genetics Haplotypes Human Migration Humans Immunology Literature reviews Machado-Joseph disease Machado-Joseph Disease - diagnosis Machado-Joseph Disease - epidemiology Machado-Joseph Disease - ethnology Machado-Joseph Disease - genetics Male Muscles Mutation Nerve conduction Nerve Tissue Proteins - genetics Neurology Nigeria Nuclear Proteins - genetics Nystagmus Pedigree Portugal Repressor Proteins - genetics Short Report Studies Asia United States > US China Japan Nigeria Azores Portugal
ISSN:	1018-4813, 1476-5438, 1476-5438
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Abstract	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.
AbstractList	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. 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.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.
Author	Sequeiros, Jorge Ogun, Shamsideen Abayomi Adebayo, Philip B Finkel, Michael F Dawodu, Clara O Martins, Sandra
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Cites_doi	10.1001/archneur.62.4.630 10.1001/archneur.64.10.1502 10.1212/WNL.30.10.1084 10.1086/318184 10.1001/archneur.58.6.899 10.1002/mds.10322 10.1212/WNL.30.3.319 10.1002/mds.10241 10.1111/j.1600-0404.1994.tb05401.x 10.1002/ajmg.b.30624 10.1001/archneurol.2011.2504 10.1212/WNL.28.7.703 10.1016/B978-0-444-51892-7.00014-0
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Snippet	Machado-Joseph disease (MJD) has been described in Africans, but no cases have been reported from Nigeria. Current MJD global distribution results from both... Machado–Joseph disease (MJD) has been described in Africans, but no cases have been reported from Nigeria. Current MJD global distribution results from both...
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SubjectTerms	Adult African Continental Ancestry Group Ataxia Ataxin-3 Demyelination Dysphagia EMG Epidemiology Female Fibrillation Founder effect Gait Genetics Haplotypes Human Migration Humans Immunology Literature reviews Machado-Joseph disease Machado-Joseph Disease - diagnosis Machado-Joseph Disease - epidemiology Machado-Joseph Disease - ethnology Machado-Joseph Disease - genetics Male Muscles Mutation Nerve conduction Nerve Tissue Proteins - genetics Neurology Nigeria Nuclear Proteins - genetics Nystagmus Pedigree Portugal Repressor Proteins - genetics Short Report Studies
Title	Machado–Joseph disease in a Nigerian family: mutational origin and review of the literature
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