parkinsonism is used to describe a syndrome manifested by any combination of six cardinal features: tremor at rest, rigidity, bradykinesia, loss of postural reflexes, flexed posture and the freezing. decreased dopaminergic neurotransmission in the basal ganglia is the core biochemical pathology in parkinsonism. hereditary parkinsonism includes various heredodegenerative diseases such as hallerv...

STUDY DESIGN A genomic screen and statistical linkage analysis of a large sample of families with individuals having idiopathic scoliosis was performed. OBJECTIVES To identify an X-linked susceptibility locus involved in the expression of familial idiopathic scoliosis. SUMMARY OF BACKGROUND DATA A large sample of families with individuals having idiopathic scoliosis (202 families; 1198 indi...

AIMS To characterise the inheritance of ptosis in one particular pedigree. METHODS The pedigree was analysed clinically and genetically to assess the mode of inheritance and to ascribe a gene locus for the condition. RESULTS Affected members of the pedigree have bilateral symmetrical congenital isolated ptosis, a condition which is linked to genetic markers on the X chromosome in this famil...

Bayesian Markov chain Monte Carlo (MCMC) segregation analysis for asthma was performed on the whole 1,544-member Hutterite pedigree. Heterogeneous and epistatic two-locus models and complex one-locus models were investigated, with trait loci postulated to be linked to markers in regions previously found to be possibly linked to asthma or atopy. The epistatic two-locus dominant-dominant model pr...

OBJECTIVE Autosomal dominant drusen is of particular interest because of its phenotypic similarity to age related macular degeneration. Currently, mutation R345W of EFEMP1 and, in a single pedigree, linkage to chromosome 6q14 have been causally related to the disease. We proposed to investigate and quantify the roles of EFEMP1 and the 6q14 locus in dominant drusen patients from the UK and USA. ...

incontinentia pigmenti (ip) is an x-linked dominant genodermatosis characterized by typical skin lesions along blaschko's lines and associated with ocular, dental, nails, hair, skeletal, central nervous system and cardiovascular anomalies. we report a 5-year-old boy with cutaneous hyperpigmentation along blaschko's lines, atrophic streaks, strabismus and mental retardation. he showed the charac...

charcot-marie-tooth disease (cmt) is the most common form of inherited peripheral neuropathy. cmt is genetically and clinically heterogenous group of hereditary motor and sensory neuropathies characterized by areflexia, distal sensory loss and progressive weakness of the distal limb muscles. the x-linked cmt (cmtx) is the second most frequent form of charcot-marie-tooth disease. the dominant cm...