1/3. Closely related Swedish rett syndrome females - none with MECP2 mutation revealed.Mutations in the MECP2 gene are known to be associated with rett syndrome (RTT) in the large majority of sporadic cases. Four Swedish families with a total of eight RTT patients (two in each family), were screened and found negative for MECP2 mutations. The series included females with both classical and forme fruste phenotypes. rett syndrome thus might still be complex and genetically multifactorial.- - - - - - - - - - ranking = 1keywords = complex (Clic here for more details about this article) |
2/3. Reduced expression of neuropeptides can be related to respiratory disturbances in rett syndrome.We immunohistochemically examined neurotransmitter systems, which function in the brainstem and are involved in neuronal organization of respiration, in an autopsy brain from a patient with rett syndrome (RS). Immunoreactivity (IR) for tyrosine hydroxylase, a functional marker for catecholaminergic neurons, was severely reduced in the locus ceruleus, while that for tryptophan hydroxylase involved in serotonin synthesis was spared in the raphe nuclei. In the brainstem, IR for substance p (SP) was reduced in the parabrachial complex and that for methionine-enkephalin (met-enk) was affected in the parabrachial, hypoglossal, dorsal vagal and solitary nuclei. In addition, expressions of these neuropeptides were also disturbed in the basal ganglia. A widespread altered expression of antagonistic neuropeptides, SP and met-enk, may be involved in the pathogenesis of RS, especially in its respiratory manifestation.- - - - - - - - - - ranking = 1keywords = complex (Clic here for more details about this article) |
3/3. The preserved speech variant: a subgroup of the Rett complex: a clinical report of 30 cases.Thirty girls and young women, 6 from sweden and 24 from italy, are described in this paper. They ranged in age from 5 through 28 years. All but one of the cases met full symptom criteria for DSM-IV autistic disorder. However, they also showed many features of classic rett syndrome (RS) as outlined by the rett syndrome Diagnostic Criteria work Group. All met the required 3 out of 6 main criteria and 47% also met both these and the required 5 out of 11 supportive criteria for RS variants as outlined by Hagberg. The course of the disorder was more benign than in classic RS, but all the girls were severely functionally impaired. There was familial clustering in a subgroup. It is concluded that these 30 cases represent a syndrome, similar and probably related, to classic RS. It is suggested that there is a spectrum of syndromes ranging from severe cases with classical presentation to considerably milder variants. We propose that, at the present state of knowledge, these conditions might be best categorized as subgroups of the "Rett Complex," in which classical RS and the preserved speech variant may be the most frequent.- - - - - - - - - - ranking = 4keywords = complex (Clic here for more details about this article) |