Cerebral white matters lesions (WML) are seen in 94% of the population aged 64 and over and are associated with cognitive decline and depression. We used immunohistochemistry and stereological methods on post mortem brain samples derived from the Medical Research Council Cognitive Function and Ageing Study (MRC-CFAS) cohort to investigate the axonal density within deep subcortical lesions. There was no significant difference between the lesional and control white matter, therefore, we conclude that there is axonal preservation within these lesions that are characterized by demyelination.
Megalocornea is a defi ning feature of megalocornea-mental retardation (MMR) syndromealso calledNeuhäuser syndrome, a rare condition of unknown etiology.Here we describe a family with two sons, who were diagnosed withmegalocornea, mild mental subnormality and microcephaly, in addition to limb anomalies in the form of clinodactyly in the younger brother, while extradigit and clinodactyly was seen in the older brother. Parents are second degree cousins with no obvious family history of similar problems.Mutations in CHRDL1 are known to cause X-linked megalocornea (MGC1) and FOXC1 mutations cause a wide range of syndromic or non-syndromic anterior segment dysgeneses (ASD) phenotypes. Sanger sequencing of CHRDL1 and FOXC1 did not identify any potential disease causing variants in this family.
Conclusions:Megalocornea-mental retardation (MMR) syndrome isa genetically and phenotypically heterogeneous condition. In this Egyptianfamily, CHRDL1 and FOXC1 have been excluded as the cause. Next generation sequencing is required to identify the genetic cause of the syndrome in this family.
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