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.
"The CA cohort included a family previously reported with CAMOS syndrome (Cerebellar Ataxia with Mental Retardation, Optic Atrophy and Skin Abnormalities) (Megarbane et al., 2001), alternatively named SCAR5 (spinocerebellar atrophy, autosomal recessive, type 5; MIM# 606737). "
[Show abstract][Hide abstract] ABSTRACT: Infantile-onset cerebellar atrophy (CA) is a clinically and genetically heterogeneous trait. Galloway-Mowat syndrome (GMS) is a rare autosomal recessive disease, characterized by microcephaly with brain anomalies including CA in some cases, intellectual disability, and early-infantile-onset nephrotic syndrome. Very recently, WDR73 deficiency was identified as the cause of GMS in five individuals. To evaluate the role of WDR73 mutations as a cause of GMS and other forms of syndromic CA, we performed Sanger or exome sequencing in 51 unrelated patients with CA and variable brain anomalies and in 40 unrelated patients with a diagnosis of GMS. We identified 10 patients from three CA and from two GMS families with WDR73 mutations including the original family described with CA, mental retardation, optic atrophy and skin abnormalities (CAMOS). There were five novel mutations, of which two were truncating and three were missense mutations affecting highly conserved residues. Individuals carrying homozygous WDR73 mutations mainly presented with a pattern of neurological and neuroimaging findings as well as intellectual disability, while kidney involvement was variable. We document postnatal onset of CA, a retinopathy, basal ganglia degeneration, and short stature as novel features of WDR73-related disease, and define WDR73-related disease as a new entity of infantile neurodegeneration. This article is protected by copyright. All rights reserved.
This article is protected by copyright. All rights reserved.
Human Mutation 06/2015; 36(11). DOI:10.1002/humu.22828 · 5.14 Impact Factor
"Cerebellar anomalies can result from several underlying causes including congenital infection, inborn errors of metabolism, chromosomal anomalies, and single gene disorders (Sarnat and Alcala 1980, Ramaekers et al. 1997, Patel and Barkovich 2002). Recently, large consanguineous families have been used to map genetic loci for familial forms of autosomal recessive cerebellar hypoplasia (Mégarbané et al. 1999, 2001; McHale et al. 2000; Delague et al. 2001, 2002). "
[Show abstract][Hide abstract] 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.
[Show abstract][Hide abstract] 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
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