scholarly journals Investigation of Four Genes Responsible for Autosomal Recessive Congenital Cataract and Highly Expressed in the Brain in Four Unrelated Tunisian Families

2012 ◽  
Vol 02 (03) ◽  
pp. 64-70 ◽  
Author(s):  
Manèl Chograni ◽  
Myriam Chaabouni ◽  
Faouzi Maazoul ◽  
Habiba Chaabouni Bouhamed
Keyword(s):  
Autosomal Recessive ◽  
Congenital Cataract ◽  
The Brain

Hypomyelination and Congenital Cataract: Clinical, Imaging, and Genetic Findings in Three Tunisian Families and Literature Review

2021 ◽  
Author(s):  
Yosra Bouyacoub ◽  
Cyrine Drissi ◽  
Ichraf Kraoua ◽  
Mariem Chargui ◽  
Ibtihel Rebai ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Congenital Cataract ◽  
Direct Sequencing ◽  
Autosomal Recessive Disorder ◽  
Resonance Imaging ◽  
Neurologic Impairment ◽  
Tunisian Patients ◽  
Myelin Deficiency ◽  
The Brain ◽  
Genotype Correlation

AbstractHypomyelination and congenital cataract (HCC) is characterized by congenital cataract, progressive neurologic impairment, and diffuse myelin deficiency. This autosomal recessive disorder is caused by homozygous variant in the FAM126A gene. Five consanguineous Tunisian patients, belonging to three unrelated families, underwent routine blood tests, electroneuromyography, and magnetic resonance imaging of the brain. The direct sequencing of FAM126A exons was performed for the patients and their relatives. We summarized the 30 previously published HCC cases. All of our patients were carriers of a previously reported c.414 + 1G > T (IVS5 + 1G > T) variant, but the clinical spectrum was variable. Despite the absence of a phenotype–genotype correlation in HCC disease, screening of this splice site variant should be performed in family members at risk.

scholarly journals DJ-1 regulates the integrity and function of ER-mitochondria association through interaction with IP3R3-Grp75-VDAC1

2019 ◽  
Vol 116 (50) ◽  
pp. 25322-25328 ◽  
Author(s):  
Yi Liu ◽  
Xiaopin Ma ◽  
Hisashi Fujioka ◽  
Jun Liu ◽  
Shengdi Chen ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Cellular Mechanism ◽  
Loss Of Function ◽  
Wild Type ◽  
Calcium Efflux ◽  
And Function ◽  
The Brain ◽  
Early Onset Parkinson’S Disease

Loss-of-function mutations in DJ-1 are associated with autosomal recessive early onset Parkinson’s disease (PD), yet the underlying pathogenic mechanism remains elusive. Here we demonstrate that DJ-1 localized to the mitochondria-associated membrane (MAM) both in vitro and in vivo. In fact, DJ-1 physically interacts with and is an essential component of the IP3R3-Grp75-VDAC1 complexes at MAM. Loss of DJ-1 disrupted the IP3R3-Grp75-VDAC1 complex and led to reduced endoplasmic reticulum (ER)-mitochondria association and disturbed function of MAM and mitochondria in vitro. These deficits could be rescued by wild-type DJ-1 but not by the familial PD-associated L166P mutant which had demonstrated reduced interaction with IP3R3-Grp75. Furthermore, DJ-1 ablation disturbed calcium efflux-induced IP3R3 degradation after carbachol treatment and caused IP3R3 accumulation at the MAM in vitro. Importantly, similar deficits in IP3R3-Grp75-VDAC1 complexes and MAM were found in the brain of DJ-1 knockout mice in vivo. The DJ-1 level was reduced in the substantia nigra of sporadic PD patients, which was associated with reduced IP3R3-DJ-1 interaction and ER-mitochondria association. Together, these findings offer insights into the cellular mechanism in the involvement of DJ-1 in the regulation of the integrity and calcium cross-talk between ER and mitochondria and suggests that impaired ER-mitochondria association could contribute to the pathogenesis of PD.

Article on Tay-Sachs Disease

2021 ◽  
pp. 475-478
Author(s):  
Bhawana. B. Bhende
Keyword(s):  
Autosomal Recessive ◽  
Genetic Disorder ◽  
Single Gene ◽  
Genetic Defect ◽  
Premature Death ◽  
Nerve Cells ◽  
Tay Sachs Disease ◽  
Hexosaminidase A ◽  
Physical Abilities ◽  
The Brain

Tay–Sachs disease is a genetic disorder that results in the destruction of nerve cells in the brain and spinal cord..also known as GM2 gangliosidosis or Hexosaminidase A deficiency) is an autosomal recessive genetic disorder. In its most common variant known as infantile Tay-Sachs disease it presents with a relentless deterioration of mental and physical abilities which commences at 6 months of age and usually results in death by the age of four.It is caused by a genetic defect in a single gene with one defective copy of that gene inherited from each parent. The disease occurs when harmful quantities of gangliosides accumulate in the nerve cells of the brain, eventually leading to the premature death of those cells. There is currently no cure or treatment. Tay- Sachs disease is a rare disease. Other autosomal disorders such as cystic fibrosis and sickle cell anemia are far more common. TSD is an autosomal recessive genetic disorder, meaning that when both parents are carriers, there is a 25% risk of giving birth to an affected child.

CT and MRI of the Brain in Inherited Neurometabolic Disorders

1992 ◽  
Vol 7 (1_suppl) ◽  
pp. S112-S131 ◽  
Author(s):  
Jan Brismar
Keyword(s):  
World Literature ◽  
Autosomal Recessive ◽  
Wide Spectrum ◽  
Neurometabolic Disorder ◽  
Neurometabolic Disorders ◽  
Number Of Patients ◽  
Pediatric Neurologist ◽  
The Brain ◽  
Very High ◽  
Ct And Mri

The incidence of many autosomal recessive neurometabolic disorders is very high in Saudi Arabia, probably as a result of the frequency of consanguineous marriages. Because our hospital is the main referral center for the entire Kingdom, we examine a large number of patients who have a wide spectrum of neurometabolic disorders. We add our experience and review the world literature. Though a specific diagnosis is radiologically possible in a few disorders, the diagnosis must always be verified biochemically. When the patient is referred from a pediatric neurologist with the diagnosis of neurometabolic disorder, the aim of the neuroradiologist is to determine the amount of brain damage present and to follow the response to given therapy. When the patient is referred with a nonspecific diagnosis, such as delayed development, the aim is to suggest the possibility of a neurometabolic disorder and to initiate further evaluation including possible therapy and genetic counseling. (J Child Neurol 1992;7(Suppl):S112-S131.)

A Homozygous Splice Mutation in theHSF4Gene Is Associated with an Autosomal Recessive Congenital Cataract

2004 ◽  
Vol 45 (8) ◽  
pp. 2716 ◽  
Author(s):  
Nizar Smaoui ◽  
Omar Beltaief ◽  
Sonia BenHamed ◽  
Ridha M’Rad ◽  
Faouzi Maazoul ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Congenital Cataract ◽  
Splice Mutation

Hypothesis: A Role for Quinolinic Acid in the Neuropathology of Glutaric Aciduria Type I

1987 ◽  
Vol 14 (S3) ◽  
pp. 441-443 ◽  
Author(s):  
Melvyn P. Heyes
Keyword(s):  
Quinolinic Acid ◽  
Autosomal Recessive ◽  
Glutaric Aciduria Type ◽  
Mass Action ◽  
Type I ◽  
Law Of Mass Action ◽  
Glutaric Aciduria ◽  
Glutaric Aciduria Type I ◽  
The Central Nervous System ◽  
The Brain

ABSTRACT:Glutaric aciduria type I is an autosomal recessive metabolic disorder of children associated with severe dystonic motor disturbances and degeneration in the cerebral cortex, striatum and cerebellum. Biochemical studies demonstrate a deficiency in the enzyme glutaryl-CoA dehydrogenase. This enzyme metabolizes substrate derived from dietary tryptophan that could otherwise be converted to quinolinic acid within the brain. The law of mass action predicts that the production of quinolinic acid should be increased in glutaric aciduria type I. Quinolinic acid is a potent neurotoxin and convulsant when it is injected into the central nervous system of experimental animals. This paper argues that quinolinic acid may accumulate within the brain and cause the neuropathology of glutaric aciduria type I.

scholarly journals INPP5K variant causes autosomal recessive congenital cataract in a Pakistani family

2018 ◽  
Vol 93 (3) ◽  
pp. 682-686 ◽  
Author(s):  
S. Yousaf ◽  
S.A. Sheikh ◽  
S. Riazuddin ◽  
A.M. Waryah ◽  
Z.M. Ahmed
Keyword(s):  
Autosomal Recessive ◽  
Congenital Cataract ◽  
Pakistani Family

scholarly journals Autosomal recessive congenital cataract in captive-bred vervet monkeys (Chlorocebus aethiops)

2018 ◽  
Vol 47 (2) ◽  
pp. 93-100 ◽  
Author(s):  
Zandisiwe E. Magwebu ◽  
Sahar Abdul-Rasool ◽  
Jürgen V. Seier ◽  
Chesa G. Chauke
Keyword(s):  
Autosomal Recessive ◽  
Congenital Cataract ◽  
Vervet Monkeys ◽  
Chlorocebus Aethiops

scholarly journals Merosin-positive congenital muscular dystrophy: neuroimaging findings

2007 ◽  
Vol 65 (1) ◽  
pp. 167-169
Author(s):  
André Palma da Cunha Matta ◽  
Márcia de Castro Diniz Gonsalves
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Autosomal Recessive ◽  
Congenital Muscular Dystrophy ◽  
Metabolic Changes ◽  
Resonance Spectroscopy ◽  
Muscle Dystrophy ◽  
Metabolic Disturbances ◽  
The Central Nervous System ◽  
The Brain

Congenital muscle dystrophy (CMD) is a heterogeneous group of autosomal recessive myopathies. It is known that CMD may affect the central nervous system (CNS). Some authors have shown that merosin-negative CMD patients may have encephalic metabolic disturbances. In order to study metabolic changes within the brain, the authors performed a magnetic resonance spectroscopy (MRS) study in a 1-year-old girl with merosin-positive CMD (MP-CMD). MRS of brain demonstrated that NAA/Cr ratio was decreased (1.52), while Cho/Cr ratio was increased (1.78). These findings suggest that metabolic changes in CNS can also be found in patients with MP-CMD.

scholarly journals Characteristic Brain Imaging Findings in a Patient with Joubert Syndrome and Segmental Glomerulosclerosis

2015 ◽  
Vol 22 (2) ◽  
pp. 53-57
Author(s):  
Ahmed H. Abduljabbar
Keyword(s):  
Brain Imaging ◽  
Autosomal Recessive ◽  
Joubert Syndrome ◽  
Recessive Trait ◽  
Autosomal Recessive Trait ◽  
Resonance Imaging ◽  
Truncal Ataxia ◽  
Bat Wing ◽  
The Brain ◽  
4Th Ventricle

Joubert syndrome is a rare disorder inherited as an autosomal recessive trait. It has distinctive clinical features and specific brain imaging fi ndings on magnetic resonance imaging. Patients present clinically with hyperpnea, apnea, ocular abnormalities, developmental delay and truncal ataxia. In this case report, we illustrate a patient with Joubert syndrome and chronic renal failure. Magmetic resonance imaging examination revealed the characteristic "molar tooth" appearance of the brain stem, "bat-wing" shaped 4th ventricle, cleft vermis and deep interpeduncular fossa consistent with the diagnosis.  

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