American Journal of Genetics


Genetic Analysis of the Clinical Manifestations of Lipofuscinosis (Batten Syndrome)

Review Article of American Journal of Genetics Genetic Analysis of the Clinical Manifestations of Lipofuscinosis (Batten Syndrome) Cursino G.T¹, Donato H.M.G², Luis J.M.S³, Ferreira K.M.L.M4, Soares T.A.B5, Souza M.B.R6 1,2,3,4,5Medical Student – UNICAP; 6Teacher/Researcher of Dept. of Biological Sciences and Health – UNICAP Introduction: Neuronal Ceroid Lipofuscinosis (NCL) is a group of neurodegenerative genetic diseases characterized by the accumulation of lipid pigment in neuronal lysosomes and other tissues. Batten syndrome (BS) is the juvenile form of this group, beginning in childhood, with its primary symptomatology manifested between 5-10 years of age, with progressive visual loss and decreased intellectual capacity. Objectives: To correlate genotype and phenotype of Batten Syndrome. Methodology: Articles published between 2000 and 2010 were pre-selected through the PubMed and SciELO databases, using the descriptor: neuronal ceroid lipofuscinoses. Twenty texts were initially analyzed, of which ten were selected after the study of titles and abstracts. Considering inclusion and exclusion criteria, only six were included in the review because they referred to the BS theme in the descriptors and abstracts. Results and Discussion: BS, an inherited autosomal recessive disease, results from the CLN3 gene mutation located on the short arm of chromosome 16p12.1, interfering with the function of the battenin protein. Clinical manifestations begin with dementia, changes in visual acuity, as well as speech disturbances, slow decline in cognitive functions and epilepsy. Motor alterations are more common in the adolescence, however, they may appear at early times and vary in intensity. The neuroradiological exams are used for the diagnosis of BS, such as computed tomography, magnetic resonance imaging (MRI) and MR proton spectroscopy, which may demonstrate cerebral and cerebellar atrophy. It is also possible to perform fundoscopy of the eye to detect abnormal pigmentation of the retina and optic atrophy. Conclusion: Due to the difficult diagnosis of BS, a disease of ...

Genetic Analysis of Clinical Manifestations of Friedreich Ataxia

Review Article of American Journal of Genetics Genetic Analysis of Clinical Manifestations of Friedreich Ataxia Cursino G.T¹, Donato H.M.G², Luis J.M.S³, Ferreira K.M.L.M4, Soares T.A.B5, Souza M.B.R6 1,2,3,4,5Medical Student – UNICAP; 6Teacher/Researcher of Dept. of Biological Sciences and Health – UNICAP Introduction:Friedreich’s ataxia (FA), an autosomal neurodegenerative disorder, conditions a destruction of nerve cells during the progression of the disease, affecting cardiac, bone and pancreatic cells. It has as main symptoms walking difficulty, progressing to changes in limb sensitivity, speech problems, atypical ocular movements, heart disease and diabetes. Objective: To carry out a review of the literature on Friedreich’s ataxia and its association with genetic alterations and molecular diagnosis. Methodology: Articles published between 2010 and 2015 were pre-selected through the PubMed and SciELO databases, using the descriptor: ataxia. Analyzing the texts, 50 studies were initially identified. After reviewing the abstracts, considering the inclusion and exclusion criteria, 20 were analyzed, 3 were included in the review because they referred to the FA theme in the descriptors and abstracts. Results and Discussion: FA was identified through the genetic mapping, determinating chromosome 9 as the locus of malformation. This chromosome contains the frataxin gene, which encodes a frataxin protein, relating as mutations and causing abnormal repeats of glutamic acid (GAA). Homozygous for GAA represents 94% of patients with the classic form of the disease. The main clinical symptoms of FA are limb ataxia, cerebellar dysarthria, sensorimotor deficit in the lower limbs and pyramidal signs. Its diagnosis is made based on clinical investigations and confirmed from tests of molecular genetics. Thus, the genetic study associated with clinical investigation allows the prognosis, characterizing: a severity of the condition, its evolution and probability of being related to myocardiopathies. Conclusion: FA, an evolutionary disease, causes complete clinical changes after a few years from the beginning of the symptomatology, ...

Dr Amanjot Kaur Riar
Brigham and Women’s Hospital- Harvard Medical School, Department of Medicine, Harvard New Research Building USA

Dr. Bogdan-Ioan COCULESCU
Center for Medical-Military Research, Bucharest, Romania, and “Titu Maiorescu” University, Faculty of Medicine, Bucharest, Romania

Dr. Mahaboob Vali Shaik
Assistant Professor/Senior Scientist, Department of Genetics & stem cell Research, Narayana Medical College & Hospitals

Dr. Omi Laila Majeed
Division of Basic Sciences and Humanities, Sher-e-Kashmir University of Agricultural Sciences and Technology

Dr. Naoshad Muhammad
Department of Radiation Oncology, School of Medicine, Washington University in Saint Louis, Saint Louis MO-63108

Dr. Abhishek Naik
Area Manager, Technology development department

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1.Silva F.F.L.; Silva K.S.. Main Differences Between Diabetes Mellitus Types 1 and 2 in Relation to Genetic Factors.American Journal of Genetics, 2018, 1:4 
2.Nascimento L.S.F; Melo A.S; Araújo A.R.L. Validation of the Conventional PCR technique for diagnosis of AML with NPM1 gene mutation.American Journal of Genetics, 2018, 1:3 

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