Expanded mutational spectrum of the GLI3 gene substantiates genotype-phenotype correlations.

Greig cephalopolysyndactyly syndrome (GCPS) and isolated preaxial polydactyly type IV (PPD-IV) are rare autosomal dominant disorders, both caused by mutations in the GLI3 gene. GCPS is mainly characterised by craniofacial abnormalities (macrocephaly/prominent forehead, hypertelorism) and limb malformations, such as PPD-IV, syndactyly and postaxial polydactyly type A or B (PAPA/B). Mutations in the GLI3 gene can also lead to Pallister-Hall syndrome (PHS) and isolated PAPA/B.

CCL3 correlates with the number of mood disturbances and personality changes in patients with Alzheimer's disease.

Although Alzheimer's disease (AD) is a primary degenerative disorder, a microglial-mediated inflammatory response, provoked by amyloid beta (Abeta), contributes to the neurodegeneration and subsequently to the cell loss. Since such an inflammatory contribution to neurodegeneration may influence disease progression, a basic question arises concerning the mechanisms of possible clinical signs dependent on inflammatory reactions. In the present study we investigated the levels of CCL3 in the peripheral blood of AD patients and correlated findings with the results of clinical tests such as the Mini-Mental State Examination (MMSE) and the Global Deterioration Scale (GDS), as well as with disturbances of behaviour, mood and personality, thereby extending the spectrum of clinical symptoms to ones not assessed by the MMSE or the GDS.

[Familial Westphal variant of Huntington's disease. Case report].

Huntington's disease (HD) is commonly recognized, and the most common autosomal dominant neurodegenerative disease of the central nervous system. The major clinical symptoms in adults include mood changes, choreic movements and progressive cognitive decline. Juvenile HD known as Westphal variant presents with significantly different signs characterized mainly by rigidity, myoclonus, and therefore causes diagnostic difficulties.

Greater frequency of subcortical lesions in severely demented patients with early onset Alzheimer's disease.

Background: Recent data have shown that in the early stages of Alzheimer's disease (AD), vascular brain lesions might promote the progression of cognitive decline or might even precede neuronal damage.

Methods: Ischemic brain lesions, recognized on computed tomography or magnetic resonance imaging, were analyzed retrospectively in 72 patients with early and late onset sporadic AD.

Results: All types of ischemic lesions occurred more frequently in the AD patients than in the controls.

[Alzheimer's disease and HSV-1 infection].

Alzheimer's disease is a complex neurodegenerative disorder. Several risk factors have been reported and compiled from genetic and epidemiological studies. Many theories on the cause of Alzheimer's disease have been proposed over the past.

Constitutive patterns of RANTES, MCP-1 and MIP-1 alpha expression at the mRNA and protein level during postnatal development of the rat brain.

The importance of chemokines seems to extend far beyond their well-known role as mediators of an inflammatory response. The most interesting hypothesis is that these molecules may influence the migration of progenitor cells during development. Primary sensory neurones have been shown to migrate towards RANTES in vitro.