New autosomal recessive cerebellar ataxia disorder in a large inbred Lebanese family
ABSTRACT A large inbred Lebanese pedigree with congenital spastic ataxia, microcephaly, optic atrophy, short stature, speech defect, abnormal osmiophilic pattern of skin vessels, cerebellar atrophy, and severe mental retardation transmitted as an autosomal recessive trait has been studied. None of the children had any evidence of a metabolic disease, and the analysis of respiratory chain complex abnormalities was unremarkable. Only one child had a history of perinatal difficulties. Differential diagnosis and the possibility that this disorder is a hitherto unreported one are discussed.
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ABSTRACT: Cerebellar hypoplasia is a rare malformation caused by a variety of etiologies. It usually manifests clinically as non-progressive cerebellar ataxia with or without mental retardation. We further characterize a syndrome of autosomal recessive cerebellar hypoplasia in the Hutterite population, referred to as dysequilibrium syndrome (DES). We reviewed 12 patients (eight females, four males; age range 4 to 33 y) with this syndrome. Patients were examined and underwent a standard set of investigations to characterize better the clinical features, natural history, and neuroimaging of this syndrome. DES is an autosomal recessive disorder with distinct clinical features including global developmental delay, late ambulation (after age 6 y), truncal ataxia, and a static clinical course. Neuroimaging is characterized by hypoplasia of the inferior portion of the cerebellar hemispheres and vermis, and mild simplification of cortical gyri.Developmental Medicine & Child Neurology 11/2005; 47(10):691-5. DOI:10.1017/S0012162205001404 · 3.29 Impact Factor
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ABSTRACT: Congenital cerebellar ataxias are a heterogeneous group of non-progressive disorders characterized by hypotonia and developmental delay followed by the appearance of ataxia, and often associated with dysarthria, mental retardation, and atrophy of the cerebellum. We report the mapping of a disease gene in a large inbred Lebanese Druze family, with five cases of a new form of non-progressive autosomal recessive congenital ataxia associated with optic atrophy, severe mental retardation, and structural skin abnormalities, to a 3.6-cM interval on chromosome 15q24-15q26.Neurogenetics 04/2002; 4(1):23-7. DOI:10.1007/s10048-001-0127-z · 2.66 Impact Factor
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ABSTRACT: The main difficulty found in vascular surgery is reliable evaluation of intraoperatory performance of vascular prosthesis in patients with vascular diseases. A system is proposed which uses CW Doppler ultrasonic equipment. The ultrasonic transducer is fixed on arteries and/or prosthesis using a special device, developed by the authors for on-site blood flow evaluation. A 16-bit microcomputer connected to the ultrasonic system digitalizes, stores in a circular memory, and processes a series of 12 signals chosen on screen by the keyboard, using functions also developed here. The signals are summed, using the peak of the QRS complex as trigger, to obtain the average result. Special software was developed to detect the QRS peak and calculate some parameters. All the results, including the averaged curve, are shown on the screen.< >Engineering in Medicine and Biology Society, 1988. Proceedings of the Annual International Conference of the IEEE; 12/1988