Non-DYT1 early onset primary torsion dystonia: comparison with DYT1 phenotype and review of the literature

Alfonso Fasano, Nardo Nardocci, Antonio Emanuele Elia, Giovanna Zorzi, Anna Rita Bentivoglio, Alberto Albanese

Risultato della ricerca: Contributo in rivistaArticolo in rivista

27 Citazioni (Scopus)


To investigate the clinical features of early-onset primary torsion dystonia (EO-PTD), 57 consecutive genetically characterized patients with onset before 21 years were studied. Sex, ethnic origin, family history of dystonia, age at onset, disease duration, site of dystonia onset and distribution at latest examination, dystonia progression, time to generalization, and motor disability were noted. The 14 patients (25%) with GAG deletion (904_906/907_909delGAG) in the DYT1 gene were compared with the remaining non-DYT1 patients. Cranial involvement was present in 49% of non-DYT1 cases, but only 14% of DYT1 cases; non-DYT1 patients were younger at time of generalization. DYT1 cases had features similar to sporadic non-DYT1 cases but differed markedly from familial non-DYT1 cases, the latter having later age at onset, less common limb onset, more frequent cervical involvement, and slower progression than DYT1 PTD. These findings indicate that non-DYT1 forms of EO-PTD differ clinically from those of DYT1 forms. Cranial involvement before 21 years of age is the strongest predictor of non-DYT1 status. Positive family history and cervical involvement are associated with less severe progression in non-DYT1 forms.
Lingua originaleEnglish
pagine (da-a)1411-1418
Numero di pagine8
RivistaMovement Disorders
Stato di pubblicazionePubblicato - 2006


  • distonia


Entra nei temi di ricerca di 'Non-DYT1 early onset primary torsion dystonia: comparison with DYT1 phenotype and review of the literature'. Insieme formano una fingerprint unica.

Cita questo