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BRIEF COMMUNICATIONS: Naheed L. Khan, Nicholas W. Wood, and Kailash P. Bhatia Autosomal recessive, DYT2-like primary torsion dystonia: A new family Neurology 2003; 61: 1801-1803 [Abstract] [Full text] [PDF]

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Autosomal recessive or dominant primary torsion dystonia

Joel Zlotogora   (17 May 2004)

Autosomal recessive or dominant primary torsion dystonia 17 May 2004
Joel Zlotogora, Hebrew University Jerusalem Send Correspondence to journal: Re: Autosomal recessive or dominant primary torsion dystonia joelz{at}cc.huji.ac.il Joel Zlotogora	Khan et al describe three siblings with childhood onset of limb dystonia with slow progression to generalized dystonia. Since the children were born to unaffected parents who were first cousins, the conclusion was that the pattern of inheritance is autosomal recessive. While this conclusion may be correct, a dominant inheritance should be considered. It is expected that in an autosomal dominant disease, one of the parents of an affected child will be affected. An exception is the case of a new mutation. When more than one child is affected, it is possible that a germinal mosaicism is present in one of their parents [1]. Many instances of germinal mosaicism for dominant disorders have been described. In the past, this led to the false clinical assumption that lethal osteogenesis imperfecta (type II) is an autosomal recessive disease. The finding of dominant mutations in patients affected with lethal osteogenesis imperfecta (type II) and of mosaicism in one parent in some of the cases demonstrated the dominant inheritance of the disease[1]. The authors also report an autosomal recessive inheritance in the family because the parents of the affected children were first cousins. However, in the Iranian Jewish community, consanguineous marriages are frequent[2]. Therefore, it is expected that in many cases the parents of children from this community will be related whether or not they are affected with a recessive disease. In addition, dominant inheritance cannot be excluded in this family, in particular since most cases of inherited dystonia are dominant. Furthermore, if the family represents a new example of the rare true autosomal recessive dystonia, the possibility of a same founder for the disease found in an Iranian Jewish family and the one reported in the gypsy is doubtful because most of the Iranian Jews do not originate from Spain or Portugal. Another reason is that because of the isolation and the high frequency of consanguineous marriages, such an old mutation would have led to a relatively high frequency of the disease among Iranian Jews. A more probable explanation would be a relatively recent new mutation in the Iranian Jews. References 1. Zlotogora J. Germline mosaicism. Hum Genet 1998;102:381-386. 2. Zlotogora J. Inherited disorders among Iranian Jews. Am J Med Genet 1995;58: 32-37.