Machado-Joseph disease is genetically different from Holguin dominant ataxia (SCA2)

Journal Article · Wed Sep 01 04:00:00 EDT 1993 · Genomics; (United States)

DOI:https://doi.org/10.1006/geno.1993.1371· OSTI ID:7077492

Silveria, I; Manaia, A ^[1]; Melki, J; Burlet, P; Rozet, J M; Munnich, A ^[2]; Magarino, C; Gispert, S ^[3]; Lunkes, A; Auburger, G ^[4]

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1. Univ. Porto (Portugal) Hopital Necker-Enfants Malades, Paris (France)
2. Hopital Necker-Enfants Malades, Paris (France)
3. Univ. Porto (Portugal) Centro Nacional Genetica Medica, Havana (Cuba)
4. Univ. Hospital, Duesseldorf (Germany)

Machado-Joseph disease (MJD) and Holguin ataxia (SCA2) are autosomal dominant multisystem degenerations with spinocerebellar involvement that are predominant among people of Portuguese-Azorean and of Cuban descent, respectively. Their clinical distinction may at times be difficult to make in individual patients, due to significant phenotypic overlapping (similar overall age-of-onset and duration of cerebellar ataxia, eye movement, and, often, other common problems). The recent mapping of SCA2 to chromosome 12q provided another candidate region for linkage studies of MJD. Original data on 10 families with Holguin ataxia show that the locus of phenylalanine hydroxylase (PAH) on chromosome 12q is linked to SCA2 at 4 cM and is thus far its closest marker. The exclusion of linkage 15 cM on each side of PAH in 16 families with MJD shows that these two forms of dominant ataxia are genetically distinct and at different chromosomal locations (nonallelic). 20 refs., 2 tabs.

• OSTI ID: 7077492
• Journal Information: Genomics; (United States), Journal Name: Genomics; (United States) Vol. 17:3; ISSN GNMCEP; ISSN 0888-7543
• Country of Publication: United States
• Language: English

Related Subjects

550400* -- Genetics
59 BASIC BIOLOGICAL SCIENCES
BODY
BRAIN
CENTRAL NERVOUS SYSTEM
CEREBELLUM
CHROMOSOMES
DISEASES
GENETIC MAPPING
HEREDITARY DISEASES
HUMAN CHROMOSOME 12
HUMAN CHROMOSOMES
MAPPING
NERVOUS SYSTEM
ORGANS