Identification of a novel primary torsion dystonia locus (DYT13) on chromosome 1p36 in an Italian family with cranial-cervical or upper limb onset

Neurological Sciences

Volumn 22, Issue 1, 2001, Pages 95-96

  Valente, E M ^a,b   Bentivoglio, A R ^c   Cassetta, E ^d   Dixon, P H ^a   Davis, M B ^a   Ferraris, A ^b   Ialongo, T ^c   Frontali, M ^e   Wood, N W ^a   Albanese, A ^c,f  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^c CATHOLIC UNIVERSITY   (Italy)

^d IRCCS ISTITUTO CENTRO SAN GIOVANNI DI DIO FATEBENEFRATELLI   (Italy)

^e CNR   (Italy)

^f DEPARTMENT OF NEUROSURGERY   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARM; ARTICLE; CHILD; CHROMOSOME 1; CHROMOSOME MAP; FEMALE; GENETICS; GENOTYPE; HUMAN; INNERVATION; ITALY; MALE; NECK; NUCLEOTIDE SEQUENCE; ONSET AGE; PATHOPHYSIOLOGY; PHENOTYPE; POINT MUTATION; PRESCHOOL CHILD; TORSION DYSTONIA;

ADOLESCENT; ADULT; AGE OF ONSET; ARM; CHILD; CHILD, PRESCHOOL; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 1; DNA MUTATIONAL ANALYSIS; DYSTONIA MUSCULORUM DEFORMANS; FEMALE; GENOTYPE; HUMANS; ITALY; MALE; NECK; PHENOTYPE; POINT MUTATION;

EID: 18044400481     PISSN: 15901874     EISSN: None     Source Type: Journal    
DOI: 10.1007/s100720170063     Document Type: Article

References (8)

1. Bressman SB (1998) Dystonia. Curr Opin Neurol 11:363-372
2. Ozelius LJ, Hewett JW, Page CE et al (1997) The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. Nat Genet 17:40-48
3. Leube B, Rundnicki D, Ratzlaff T et al (1996) Idiopathic torsion dystonia: assignment of a gene to chromosome 18p in a German family with adult onset, autosomal dominant inheritance and purely focal distribution. Hum Mol Genet 5:1673-1677
4. Almasy L, Bressman SB, Raymond D et al (1997) Idiopathic torsion dystonia linked to chromosome 8 in two Mennonite families. Ann Neurol 42:670-673
5. Bentivoglio AR, Del Grosso N, Albanese A et al (1997) Non-DYT1 dystonia in a large Italian family. J Neurol Neurosurg Psychiatry 62:357-360
6. Jarman PR, Del Grosso N, Valente EM et al (1999) Primary torsion dystonia: the search for genes is not over. J Neurol Neurosurg Psychiatry 67:395-397
7. Holmgren G, Ozelius LJ, Forsgren L et al (1995) Adult onset idiopathic torsion dystonia is excluded from the DYT1 region (9q34) in a Swedish family. J Neurol Neurosurg Psychiatry 59:178-181
8. Cassetta E, Del Grosso N, Bentivoglio AR et al (1994) Italian family with cranial-cervical dystonia: clinical and genetic study. Mov Disord 14:820-825