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a Department of
Paediatrics, Rikshospitalet, University of Oslo, Oslo, Norway, b Department of Psychosomatic and
Behavioural Medicine, Rikshospitalet, University of Oslo, Oslo, Norway, c Department of Dermatology,
Rikshospitalet, University of Oslo, Oslo, Norway, d Centre
for Human Genetics, University of Leuven, Leuven, Belgium
Correspondence to: Dr Strømme, Section for Child Neurology, Department of Paediatrics, The National Hospital, Rikshospitalet, 0027 Oslo, Norway.
Received 2 June 1998;
Revised version accepted for publication 1 September 1998
In order to describe the neurological abnormalities and to
identify the gene localisation, we re-evaluated a previously reported family with X linked mental retardation (XLMR). Reliable data were
obtained for six of the seven affected males, of whom two had had
infantile spasms. Profound MR (IQ<20) was found in one and mild MR (IQ
50-70) in five males. No dysmorphic features, except for macrocephaly
in one male, were found. Neurological abnormalities included varying
degrees of spinocerebellar involvement. Neuroimaging studies showed
abnormalities, such as cerebellar atrophy or corpus callosum hypoplasia
or both, in three of the six males. Several affected and unaffected
subjects suffered from hyperhidrosis, which appeared to segregate
independently as an autosomal dominant trait. Genetic linkage analysis
localised the XLMR disease gene to Xp11.4-Xp22.11 with a maximum
multipoint lod score of 3.57, overlapping the candidate region recently
found in two Belgian XLMR-infantile spasm families. Compared to the Belgian patients, the majority of the affected males in this report had
a considerably milder phenotype.
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