Biomaterial Database

Machado-Joseph (Azorean) disease in a Yemenite Jewish family in Israel. 1994

H Goldberg-Stern, and R D'jaldetti, and E Melamed, and N Gadoth

Department of Neurology, Beilinson Medical Center, Petah Tiqva, Israel.

Machado-Joseph disease (MJD), an autosomal dominant, progressive, multisystem degeneration with cerebellar ataxia as the cardinal manifestation, usually affects individuals of Portuguese ancestry from the Azorean Islands. Cases have been reported in families from Japan, India, China, Brazil, and Australia. We report the first Israeli Jewish family with MJD, originating from a remote village near Ta'izz in Yemen.

UI	MeSH Term	Description	Entries
D007557	Israel	A country in the Middle East, bordering the Mediterranean Sea, between Egypt and Lebanon. The capital is Jerusalem.
D007585	Jews	An ethnic group with historical ties to the land of ISRAEL and the religion of JUDAISM.	Jew
D008297	Male		Males
D009460	Neurologic Examination	Assessment of sensory and motor responses and reflexes that is used to determine impairment of the nervous system.	Examination, Neurologic,Neurological Examination,Examination, Neurological,Examinations, Neurologic,Examinations, Neurological,Neurologic Examinations,Neurological Examinations
D010375	Pedigree	The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.	Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
D005260	Female		Females
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328	Adult	A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available.	Adults
D015006	Yemen	A country in the Middle East, bordering the Arabian Sea, Gulf of Aden, and Red Sea, between Oman and Saudi Arabia. The capital is Sanaa.	Aden,North Yemen,Sanaa,South Yemen,Democratic Yemen,Republic of Yemen
D017827	Machado-Joseph Disease	A dominantly-inherited ATAXIA first described in people of Azorean and Portuguese descent, and subsequently identified in Brazil, Japan, China, and Australia. This disorder is classified as one of the SPINOCEREBELLAR ATAXIAS (Type 3) and has been associated with a mutation of the MJD1 gene on chromosome 14. Clinical features include progressive ataxia, DYSARTHRIA, postural instability, nystagmus, eyelid retraction, and facial FASCICULATIONS. DYSTONIA is prominent in younger patients (referred to as Type I Machado-Joseph Disease). Type II features ataxia and ocular signs; Type III features MUSCULAR ATROPHY and a sensorimotor neuropathy; and Type IV features extrapyramidal signs combined with a sensorimotor neuropathy. (From Clin Neurosci 1995;3(1):17-22; Ann Neurol 1998 Mar;43(3):288-96)	Azorean Disease,Joseph Disease,Spinocerebellar Ataxia Type 3,Striatonigral Degeneration, Autosomal Dominant,Autosomal Dominant Striatonigral Degeneration,Azorean Ataxia,Azorean Disease (Machado-Joseph),Azorean Disease, Nervous System,Azorean Neurologic Disease,Joseph Azorean Disease,Machado-Joseph Azorean Disease,Machado-Joseph Disease Type I,Machado-Joseph Disease Type II,Machado-Joseph Disease Type III,Machado-Joseph Disease Type IV,Nervous System Azorean Disease,Nigrospinodentatal Degeneration,Spinocerebellar Ataxia 3,Spinocerebellar Ataxia-3,Spinocerebellar Atrophy III,Spinocerebellar Atrophy Type 3,Type 3 Spinocerebellar Ataxia,Type I Machado-Joseph Disease,Type II Machado-Joseph Disease,Type III Machado-Joseph Disease,Type IV Machado-Joseph Disease,3s, Spinocerebellar Ataxia,Ataxia 3, Spinocerebellar,Ataxia 3s, Spinocerebellar,Atrophy III, Spinocerebellar,Atrophy IIIs, Spinocerebellar,Azorean Disease (Machado Joseph),Degeneration, Nigrospinodentatal,Degenerations, Nigrospinodentatal,Disease, Azorean,Disease, Azorean (Machado-Joseph),Disease, Azorean Neurologic,Disease, Joseph,Disease, Joseph Azorean,Disease, Machado-Joseph,Disease, Machado-Joseph Azorean,III, Spinocerebellar Atrophy,Machado Joseph Azorean Disease,Machado Joseph Disease,Machado Joseph Disease Type I,Machado Joseph Disease Type II,Machado Joseph Disease Type III,Machado Joseph Disease Type IV,Neurologic Disease, Azorean,Nigrospinodentatal Degenerations,Spinocerebellar Ataxia 3s,Spinocerebellar Atrophy IIIs,Type I Machado Joseph Disease,Type II Machado Joseph Disease,Type III Machado Joseph Disease,Type IV Machado Joseph Disease