Abstract
We present three patients affected by ITD belonging to a large Italian family. They were the only family members reportedly affected by dystonia. Index patient was a 5 2-year-old woman affected by generalized dystonia, started in the neck at the age of 40 years. In her 30year-old son the first symptom was spasmodic dysphonia (age at onset: 14 years). In her 26year-old daughter the first symptom was writer's cramp (age at onset: 11 years); in both the disease rapidly progressed to generalized ITD. It is remarkable that, in this family, anticipation of the age at symptoms onset between two generations occurred.
| Original language | English |
|---|---|
| Pages (from-to) | 133 |
| Number of pages | 1 |
| Journal | Italian Journal of Neurological Sciences |
| Volume | 18 |
| Issue number | 4 |
| Publication status | Published - 1997 |
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ASJC Scopus subject areas
- Neuroscience(all)
- Clinical Neurology
Cite this
Phenotypic features of severe familial generalized idiopathic torsion dystonia (ITD). / Bentivoglio, A. R.; Cassette, E.; Defazio, G.; De Mari, M.; Albanese, A.; Tonali, P.
In: Italian Journal of Neurological Sciences, Vol. 18, No. 4, 1997, p. 133.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Phenotypic features of severe familial generalized idiopathic torsion dystonia (ITD)
AU - Bentivoglio, A. R.
AU - Cassette, E.
AU - Defazio, G.
AU - De Mari, M.
AU - Albanese, A.
AU - Tonali, P.
PY - 1997
Y1 - 1997
N2 - We present three patients affected by ITD belonging to a large Italian family. They were the only family members reportedly affected by dystonia. Index patient was a 5 2-year-old woman affected by generalized dystonia, started in the neck at the age of 40 years. In her 30year-old son the first symptom was spasmodic dysphonia (age at onset: 14 years). In her 26year-old daughter the first symptom was writer's cramp (age at onset: 11 years); in both the disease rapidly progressed to generalized ITD. It is remarkable that, in this family, anticipation of the age at symptoms onset between two generations occurred.
AB - We present three patients affected by ITD belonging to a large Italian family. They were the only family members reportedly affected by dystonia. Index patient was a 5 2-year-old woman affected by generalized dystonia, started in the neck at the age of 40 years. In her 30year-old son the first symptom was spasmodic dysphonia (age at onset: 14 years). In her 26year-old daughter the first symptom was writer's cramp (age at onset: 11 years); in both the disease rapidly progressed to generalized ITD. It is remarkable that, in this family, anticipation of the age at symptoms onset between two generations occurred.
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UR - http://www.scopus.com/inward/citedby.url?scp=33746338609&partnerID=8YFLogxK
M3 - Article
AN - SCOPUS:33746338609
VL - 18
SP - 133
JO - Italian Journal of Neurological Sciences
JF - Italian Journal of Neurological Sciences
SN - 0392-0461
IS - 4
ER -