scholarly journals Neuro-Ophthalmological Findings in Friedreich’s Ataxia

2021 ◽  
Vol 11 (8) ◽  
pp. 708
Author(s):  
Pilar Rojas ◽  
Rosa de Hoz ◽  
Manuel Cadena ◽  
Elena Salobrar-García ◽  
José A. Fernández-Albarral ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Genetic Disorder ◽  
Friedreich Ataxia ◽  
Clinical Signs ◽  
Chromosome 9 ◽  
Sensory Loss ◽  
Ocular Involvement ◽  
Pes Cavus ◽  
First Intron ◽  
Children And Young Adults

Friedreich ataxia (FRDA) is a progressive neurodegenerative disease caused by a severe autosomal recessive genetic disorder of the central nervous (CNS) and peripheral nervous system (PNS), affecting children and young adults. Its onset is before 25 years of age, with mean ages of onset and death between 11 and 38 years, respectively. The incidence is 1 in 30,000–50,000 persons. It is caused, in 97% of cases, by a homozygous guanine-adenine-adenine (GAA) trinucleotide mutation in the first intron of the frataxin (FXN) gene on chromosome 9 (9q13–q1.1). The mutation of this gene causes a deficiency of frataxin, which induces an altered inflow of iron into the mitochondria, increasing the nervous system’s vulnerability to oxidative stress. The main clinical signs include spinocerebellar ataxia with sensory loss and disappearance of deep tendon reflexes, cerebellar dysarthria, cardiomyopathy, and scoliosis. Diabetes, hearing loss, and pes cavus may also occur, and although most patients with FRDA do not present with symptomatic visual impairment, 73% present with clinical neuro-ophthalmological alterations such as optic atrophy and altered eye movement, among others. This review provides a brief overview of the main aspects of FRDA and then focuses on the ocular involvement of this pathology and the possible use of retinal biomarkers.

scholarly journals Childhood Ataxia

2012 ◽  
Vol 27 (9) ◽  
pp. 1095-1120 ◽  
Author(s):  
Claire N. Ashley ◽  
Kelly D. Hoang ◽  
David R. Lynch ◽  
Susan L. Perlman ◽  
Bernard L. Maria
Keyword(s):  
Clinical Trials ◽  
Autosomal Recessive ◽  
Friedreich Ataxia ◽  
Chromosome 9 ◽  
Society Meeting ◽  
Natural History Study ◽  
Impaired Balance ◽  
Gaa Repeat Expansion ◽  
Childhood Ataxia ◽  
Frataxin Gene

Childhood ataxia is characterized by impaired balance and coordination primarily because of cerebellar dysfunction. Friedreich ataxia, a form of childhood ataxia, is the most common multisystem autosomal recessive disease. Most of these patients are homozygous for the GAA repeat expansion located on the first intron of the frataxin gene on chromosome 9. Mutations in the frataxin gene impair mitochondrial function, increase reactive oxygen species, and trigger redistribution of iron in the mitochondria and cytosol. Targeted therapies for Friedreich ataxia are undergoing testing. In addition, a centralized database, patient registry, and natural history study have been launched to support clinical trials in Friedreich ataxia. The 2011 Neurobiology of Disease in Children symposium, held in conjunction with the 40th annual Child Neurology Society meeting, aimed to (1) describe clinical features surrounding Friedreich ataxia, including cardiomyopathy and genetics; (2) discuss recent advances in the understanding of the pathogenesis of Friedreich ataxia and developments of clinical trials; (3) review new investigations of characteristic symptoms; and (4) establish clinical and biochemical overlaps in neurodegenerative diseases and possible directions for future basic, translational, and clinical studies.

scholarly journals Laurence-Moon-Bardet-Biedl Syndrome: A case report

2019 ◽  
Vol 59 (6) ◽  
pp. 349-52
Author(s):  
Md. Mozammel Haque ◽  
Kamrunnaher Shultana ◽  
Tahmina Binte Matin ◽  
Md. Shohidul Islam Khan ◽  
Abdullah Al Baki
Keyword(s):  
Mental Retardation ◽  
Case Report ◽  
Autosomal Recessive ◽  
Genetic Disorder ◽  
Retinal Pigment ◽  
Clinical Signs ◽  
Mental Deficiency ◽  
Cone Dystrophy ◽  
Anal Atresia ◽  
Bardet Biedl Syndrome

Laurence-Moon-Bardet-Beidl syndrome is a rare ciliopathic and pleiotropic human autosomal recessive genetic disorder.1 In 1886, Laurence and Moon explained a case of a 7-year-old female with rod-cone dystrophy, hypogenitalism, mental retardation, obesity, and polydactyly. In 1920, Bardet described a 4-year-old female patient presented with rod-cone dystrophy, obesity, polydactyly (11 toes), and mental retardation.1 Two years after Bardet’s report, Biedl highlighted the complete scenario of clinical signs which includes skull abnormalities, anal atresia, mental deficiency, and gastrointestinal conflicts.1 Since these discoveries, symptoms such as obesity, hypogonadism, retinal pigment defects, psychological hindrance, and polydactylismin in several conditions as combinations, frequently in children with normal parents (cousin marriages) has been termed as Laurence-Moon-Bardet-Biedl syndrome (LMBBS).1

Rhinosinusitis in the Pediatric Patient with Cystic Fibrosis

2014 ◽  
Vol 10 (3) ◽  
pp. 198-201 ◽  
Author(s):  
Christopher Fundakowski ◽  
Rosemary Ojo ◽  
Ramzi Younis
Keyword(s):  
Cystic Fibrosis ◽  
Autosomal Recessive ◽  
Pediatric Patients ◽  
Surgical Intervention ◽  
Chronic Sinusitis ◽  
Genetic Disorder ◽  
Symptomatic Relief ◽  
Recurrence Rates ◽  
Polyp Recurrence ◽  
Sinonasal Polyposis

Cystic fibrosis (CF) is a common autosomal recessive genetic disorder where a deletion mutation and subsequent downstream alteration in transmembrane regulator proteins results in increased mucus viscosity. CF manifests clinically with chronic multisystem inflammation and recurrent infections. Nearly all children with CF have chronic sinusitis, and a large majority will have concurrent sinonasal polyposis. Chronic sinusitis and sinonasal polyposis in pediatric patients with CF can be managed conservatively initially, though most will fail medical management and require surgical intervention. Unfortunately, symptom resolution is marginal and polyp recurrence rates are high. Currently, no cure exists for CF and the mainstay of treatment is to provide symptomatic relief, and minimize disease morbidity.

scholarly journals Future Prospects of Gene Therapy for Friedreich’s Ataxia

2021 ◽  
Vol 22 (4) ◽  
pp. 1815 ◽  
Author(s):  
Gabriel Ocana-Santero ◽  
Javier Díaz-Nido ◽  
Saúl Herranz-Martín
Keyword(s):  
Gene Therapy ◽  
Viral Vectors ◽  
Autosomal Recessive ◽  
State Of The Art ◽  
Friedreich’S Ataxia ◽  
Friedreich's Ataxia ◽  
First Intron ◽  
Progressive Neurodegeneration ◽  
Feasible Solutions ◽  
Neurogenetic Disease

Friedreich’s ataxia is an autosomal recessive neurogenetic disease that is mainly associated with atrophy of the spinal cord and progressive neurodegeneration in the cerebellum. The disease is caused by a GAA-expansion in the first intron of the frataxin gene leading to a decreased level of frataxin protein, which results in mitochondrial dysfunction. Currently, there is no effective treatment to delay neurodegeneration in Friedreich’s ataxia. A plausible therapeutic approach is gene therapy. Indeed, Friedreich’s ataxia mouse models have been treated with viral vectors en-coding for either FXN or neurotrophins, such as brain-derived neurotrophic factor showing promising results. Thus, gene therapy is increasingly consolidating as one of the most promising therapies. However, several hurdles have to be overcome, including immunotoxicity and pheno-toxicity. We review the state of the art of gene therapy in Friedreich’s ataxia, addressing the main challenges and the most feasible solutions for them.

MULIBREY NANISM, AN AUTOSOMAL RECESSIVE SYNDROME WITH OCULAR INVOLVEMENT

2009 ◽  
Vol 60 (4) ◽  
pp. 628-633 ◽  
Author(s):  
A. TARKKANEN ◽  
C. RAITTA ◽  
J. PERHEENTUPA
Keyword(s):  
Autosomal Recessive ◽  
Ocular Involvement ◽  
Mulibrey Nanism

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.

scholarly journals Atypical presentation of Goldenher syndrome- a rare scenario

2014 ◽  
Vol 9 (4) ◽  
pp. 51-54
Author(s):  
C Lath ◽  
S Sen ◽  
M Mondal ◽  
D Maiti ◽  
R Singh ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Chromosomal Analysis ◽  
Ocular Involvement ◽  
Atypical Presentation ◽  
Medical Sciences ◽  
Multifactorial Inheritance ◽  
Mandibular Hypoplasia ◽  
Exact Etiology ◽  
Vertebral Anomalies

In 1952 Goldenher described a case with triad of pre auricular tags, mandibular hypoplasia and ocular (epibulbar) dermoid and described the case as Goldenger Syndrome. Exact etiology of this disease is not known. Here we present a case of Goldenher syndrome in a 5 days old newborn who presented with all the classical features except ocular involvement.   Gorlin et.al named this syndrome as oculoauriculovertebral dysplasia due to presence of additional vertebral anomalies .2 Exact etiology of this disease is not known. Most of the cases are sporadic, though autosomal recessive, autosomal dominant and multifactorial inheritance has also been suggested.2.Chromosomal analysis shows no abnormalities.3 In this report we presented a case of Goldenger Syndrome in a 5 days old newborn who presented with all the classical features except occular involvement. Journal of College of Medical Sciences-Nepal, 2013, Vol-9, No-4, 59-62 DOI: http://dx.doi.org/10.3126/jcmsn.v9i4.10239

scholarly journals Genetics of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) and Role of Sacsin in Neurodegeneration

2022 ◽  
Vol 23 (1) ◽  
pp. 552
Author(s):  
Jaya Bagaria ◽  
Eva Bagyinszky ◽  
Seong Soo A. An
Keyword(s):  
Neurodegenerative Diseases ◽  
Autosomal Recessive ◽  
Genetic Mutations ◽  
Compound Heterozygous ◽  
French Canadians ◽  
Pes Cavus ◽  
Spastic Ataxia ◽  
Mitochondrial Functions ◽  
Limb Deformities

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an early-onset neurodegenerative disease that was originally discovered in the population from the Charlevoix-Saguenay-Lac-Saint-Jean (CSLSJ) region in Quebec. Although the disease progression of ARSACS may start in early childhood, cases with later onset have also been observed. Spasticity and ataxia could be common phenotypes, and retinal optic nerve hypermyelination is detected in the majority of patients. Other symptoms, such as pes cavus, ataxia and limb deformities, are also frequently observed in affected individuals. More than 200 mutations have been discovered in the SACS gene around the world. Besides French Canadians, SACS genetics have been extensively studied in Tunisia or Japan. Recently, emerging studies discovered SACS mutations in several other countries. SACS mutations could be associated with pathogenicity either in the homozygous or compound heterozygous stages. Sacsin has been confirmed to be involved in chaperon activities, controlling the microtubule balance or cell migration. Additionally, sacsin may also play a crucial role in regulating the mitochondrial functions. Through these mechanisms, it may share common mechanisms with other neurodegenerative diseases. Further studies are needed to define the exact functions of sacsin. This review introduces the genetic mutations discovered in the SACS gene and discusses its pathomechanisms and its possible involvement in other neurodegenerative diseases.

scholarly journals Bardet Biedl Syndrome: A Rare Case Report in a Tertiary Care Teaching Hospital, Dhaka, Bangladesh

2021 ◽  
Vol 3 (1) ◽  
pp. 11-14
Author(s):  
Sadia Saber ◽  
Mohammad Dabir Hossain ◽  
Mohammed Tarek Alam ◽  
Mohammad Monower Hossain ◽  
Suhail Gulzar
Keyword(s):  
Rare Case ◽  
Autosomal Recessive ◽  
Genetic Disorder ◽  
Tertiary Care ◽  
Consanguineous Marriage ◽  
Bardet Biedl Syndrome ◽  
Excessive Weight ◽  
Rare Case Report ◽  
Males And Females ◽  
Renal Abnormalities

Bardet Biedl Syndrome (BBS) is an infrequent ciliopathic autosomal recessive genetic disorder that produces many effects and affects various body systems. Consanguineous marriage is conventionally considered as the most frequent etiology. The primary characteristics of the disorder are gradual visual impairment caused by retinal abnormalities, excessive weight gain, learning disabilities, Postaxial Polydactyly, Hypogonadism in males, renal abnormalities (kidney malformations and/or malfunctions). It affects both males and females. There is currently no specific cure for BBS but children with BBS benefit greatly from therapies like physical, occupational, speech and vision services. We, here, have presented a young boy of 15 years with the features of Bardet Biedl Syndrome.

scholarly journals Gaucher's Disease - A case report

2015 ◽  
Vol 2 (2) ◽  
pp. 130
Author(s):  
Preeti Bajaj ◽  
Jyoti Kasture ◽  
Balbir Singh Shah
Keyword(s):  
Autosomal Recessive ◽  
Genetic Disorder ◽  
Early Adulthood ◽  
Lysosomal Storage ◽  
Gaucher's Disease ◽  
Gaucher’S Disease ◽  
Type 3 ◽  
Storage Disorders

Gaucher's Disease (GD) is an autosomal recessive systemic lysosomal storage disorder which is characterized by glucocerebroside deposition in cells of the macrophage-monocyte system as a result of a deficiency in lysosomal P-glycosidase (glucocerebrosidase). GD is a rare genetic disorder. It is the most common amongst the lysosomal storage disorders. GD has been categorised into three types based on the presence of central nervous involvement1. Type 1 is a non-neuronopathic form that presents in childhood or early adulthood. Type 2 is acute neuronopathic form that presents in childhood. It progresses rapidly and is fatal. Type 3 is chronic non-neuronopathic form that presents in childhood but is slowly progressive. Here we describe a case of a three and a half year old male child in whom a diagnosis of Gaucher's disease was made based on bone marrow biopsy and later confirmed by glucocerebrosidase levels estimation.

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