Karak syndrome: a novel degenerative disorder of the basal ganglia and cerebellum.
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Abnormalities, Multiple↗
Biomedical subjects
A Mubaidin
Publications and source records attributed to A Mubaidin.
Kufor-Rakeb syndrome, pallido-pyramidal degeneration with supranuclear upgaze paresis and dementia, maps to 1p36.
Kufor-Rakeb syndrome is an autosomal recessive nigro-striatal-pallidal-pyramidal neurodegeneration. The onset is in the teenage years with clinical features of Parkinson's disease plus spasticity, supranuclear upgaze paresis, and dementia. Brain scans show atrophy of the globus pallidus and pyramids and, later, widespread cerebral atrophy. We report linkage in Kufor-Rakeb syndrome to a 9 cM region of chromosome 1p36 delineated by the markers D1S436 and D1S2843, with a maximum multipoint lod score of 3.6.
Chromosome Mapping↗
A novel form of distal hereditary motor neuronopathy maps to chromosome 9p21.1-p12.
Distal hereditary motor neuronopathies (dHMNs) form a heterogeneous group of rare disorders characterized by distal weakness and wasting in the limbs with no significant sensory involvement. Harding has classified dHMNs into seven categories based on clinical and genetic criteria. We report a novel form of autosomal recessive dHMN in 7 consanguineous families located in the Jerash region of Jordan. Onset of the disease is between 6 and 10 years of age and is characterized by weakness and atrophy of the lower limbs associated with pyramidal features. Within 2 years, symptoms progress to the upper limbs. Neurophysiological studies typically show normal conduction velocities, reduced compound motor action potential amplitudes, normal sensory nerve action potentials, and chronic neurogenic changes on needle electromyography. No significant abnormalities are seen on sural nerve biopsy. We call this novel form of dHMN Jerash hereditary motor neuronopathy. We studied the families at the molecular genetic level and mapped the Jerash hereditary motor neuronopathy gene to an approximately 0.54-cM region on chromosome 9p21.1-p12, flanked by microsatellite polymorphic marker loci D9S1845 and D9S1791. A maximum LOD score of 19.80 at theta = 0.001 was obtained between the disease and locus D9S1878.
Adolescent↗
Chromosome 17p-linked myasthenias stem from defects in the acetylcholine receptor epsilon-subunit gene.
OBJECTIVE: To identify and to characterize functionally the mutational basis of congenital myasthenic syndromes (CMS) linked to chromosome 17p. BACKGROUND: A total of 37 patients belonging to 13 CMS families, 9 of them consanguineous, were investigated. All patients were linked previously to the telomeric region of chromosome 17p. Two candidate genes in this region encode synaptobrevin 2, a presynaptic protein, and the epsilon-subunit of the acetylcholine receptor (AChR). Direct sequencing of the synaptobrevin 2 gene revealed no mutations. The authors thus searched for mutations in the epsilon-subunit gene of AChR. METHODS: Direct sequencing of the AChR epsilon-subunit, restriction analysis, allele-specific PCR, and expression studies in human embryonic kidney cells were performed. RESULTS: The authors identified two previously characterized and five novel epsilon-subunit gene mutations, all homozygous, in the 13 kinships. Two of the novel mutations are truncating (epsilon723delC and epsilon760ins8), one is a missense mutation in the signal peptide region (epsilonV-13D), one is a missense mutation in the N-terminal extracellular domain (epsilonT51P), and one is a splice donor site mutation in intron 10 (epsilonIVS10+2T-->G). Unaffected family members have no mutations or are heterozygous. Expression studies indicate that the four novel mutations in the coding region of the gene and the most likely transcript of the splice-site mutation, which skips exon 10, are low-expressor or null mutations. CONCLUSIONS: Chromosome 17p-linked congenital myasthenic syndromes are caused by low-expressor/null mutations in the AChR epsilon-subunit gene. Mutations in this gene are a common cause of CMS in eastern Mediterranean countries.
Adolescent↗
Distal hereditary motor neuronopathy of the Jerash type.
A novel form of autosomal recessive distal hereditary motor neuronopathy (distal HMN) is reported. The presence of pyramidal signs within the early stages of the disease with persistence of knee hyperreflexia form distinctive clinical features. We have mapped the HMN-J gene to chromosome 9p21.1-p12, within an estimated interval of 1.2-Mb.
Chromosome Mapping↗
Distal hereditary motor neuronopathy of the Jerash type.
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Adolescent↗
Signaling between the placenta and the uterus involving the mitogen-regulated protein/proliferins.
The aim of this investigation was to examine signaling between the placenta and uterus during pregnancy. To do this, we determined the tissue messenger RNA and protein levels of members of a glycopeptide hormone family known to stimulate the proliferation of uterine cells and related these levels to the growth of the uterus during pregnancy in the mouse. This hormone family is known as mitogen-regulated protein (MRP); alternatively proliferin (PLF). Three mrp/plf genes, plf1, mrp3 and mrp4, are expressed by the placenta with different developmental profiles. The major increase of about 4-fold in DNA content of the uterus occurs between days 9 and 14 when MRP/PLFs are present in the placenta. By contrast, the gestational changes in estradiol-17beta levels in placental and uterine tissues and in circulation do not correlate with the period of uterine growth. The previously reported mitogenic activity of the MRP/PLFs and their gestational profiles suggest that one or more of these proteins stimulates uterine proliferation during gestation. Evidence is also presented that expression of MRP3 and/or PLF1, but not MRP4, is negatively regulated by feedback from the uterus. Our results are consistent with the hypothesis that MRP/PLFs stimulate uterine proliferation in vivo and that a uterine factor shuts off PLF1 and/or MRP3 synthesis in the latter half of gestation.
Amniotic Fluid↗
Epidemiology of multiple sclerosis in Arabs in Jordan: a comparative study between Jordanians and Palestinians.
In a 2-year hospital-based study in Jordan 131 Arab multiple sclerosis patients were identified including 84 Palestinians and 36 Jordanians. Based on MS/ALS case ratio, multiple sclerosis was found to be twice as common among Palestinians than Jordanians. Other than the less marked female preponderance among Jordanian patients, the disease had the same clinical and paraclinical characteristics in both groups. It was more likely for Palestinian and Jordanian patients to originate from the northern parts of their countries, to be Rh negative and to be HLA-DR2 positive than their controls. Palestinians (patients and controls) did not show significant differences from Jordanians (patients and controls) in relation to their eye color, ABO and Rh blood groups distribution nor the HLA-DR or HLA-DQ (apart from HLA-DQ3) epitopes frequency, thus not offering any significant difference in the genetic-racial markers studies to explain the difference in the observed disease susceptibility. Previous studies demonstrated that 2 racially different populations sharing the same environment can have different risk of developing multiple sclerosis, but this study has shown that this can also be true for 2 racially similar populations sharing the same environment.
Adolescent↗
Multiple sclerosis in Arabs in Jordan.
In a 2-year hospital-based study (1992 and 1993), there were 131 multiple sclerosis patients attending 2 large referral hospitals in Jordan. Based on MS/ALS case ratios an overall rate of 32.1 (95% CI 19.7-55.2) was estimated. There were 126 Arabs of whom 84 were Palestinians and 36 indigenous Jordanians. Comparison of these subgroups, which had a similar age distribution revealed that the disease was twice as frequent in Palestinians (estimated 42.0/100,000 (CI 2.8-90.8)) among Jordanians (estimated 20.0/100,000 (CI 9.5-47.2)). Clinical presentation, pattern of disease, disability and HLA association were similar to that in the disease reported in Caucasians in the West. All investigations including neurophysiology and imaging were also very similar to Western reports.
Adolescent↗
Autosomal recessive ataxia, slow eye movements and psychomotor retardation.
Two consanguineous Arab families with an autosomal recessive form of hereditary ataxia with slow eye movements and psychomotor retardation are reported. The ataxia presented in the first decade, was severely disabling and was associated with a spectrum of eye movements abnormalities as well as psychomotor retardation and sensory neuropathy. MRI studies of the brain showed a significant degree of cerebellar and brainstem atrophy. These 2 families support a previous report of a similarly affected consanguineous Arab family. The syndrome of autosomal recessive ataxia and slow or even absent saccades is proposed to be related but not identical to the autosomal dominant form known as the Wadia Swami syndrome, both of which seem to be related to the olivopontocerebellar degenerations.
Adult↗
Pallido-pyramidal degeneration, supranuclear upgaze paresis and dementia: Kufor-Rakeb syndrome.
An unusual neurological syndrome in an Arab family with five affected siblings, is reported. Autosomal recessive inheritance is suggested by having multiple affected siblings born to phenotypically normal consanguineous parents. Similar to Davison's Pallido-pyramidal syndrome, they presented with the clinical signs and symptoms of severe parkinsonism as well as evidence of cortico-spinal tract disease. In addition, they had dementia and supranuclear upgaze paresis. MRI studies showed significant atrophy of the globus pallidus and the pyramids, as well as generalized brain atrophy in later stages. Therapy with levodopa resulted in significant improvement in the extrapyramidal dysfunction. We suggest that this probably represents a new syndrome which is closely related but not identical to the pallido-pyramidal syndrome.
Adolescent↗
Risk factors of aseptic intracranial venous occlusive disease.
INTRODUCTION: Risk factors for aseptic intracranial venous occlusive disease are varied but only few epidemiologic studies were performed to verify the relative importance of particular factors. PATIENTS AND METHODS: A 2-year hospital-based prospective study was conducted in two hospitals to identify the clinical characteristics and risk factors of patients with confirmed aseptic intracranial venous occlusive disease. RESULTS: 21 patients were identified, representing 0.9% of the total neurological admissions. Men were more commonly affected than women; 81% of the patients presented in a clinical picture indistinguishable from idiopathic intracranial hypertension. Risk factors included Behçet's disease in 4, the puerperium in 3, thrombophelia in 3, familial Mediterranean fever in 2, malignancies in 1, lupus anticoagulant in 1, and the contraceptive pill in 1. CONCLUSION: Aseptic intracranial venous occlusive disease proved to be not rare in Arabs. It should be considered seriously in the differential diagnosis of idiopathic intracranial hypertension, particularly in males. Several risk factors were incriminated.
Adolescent↗