Spinocerebellar Ataxia PowerPoint PPT Presentations

It is a genetic disease caused by either a recessive or dominant gene. SCA refers to a group of ataxias that are Known to be hereditary Cause harm to the cerebellum The cerebellum is the part of the brain which maintains balance and controls movements.

Poor muscle control that results in clumsy involuntary movements is called Ataxia. SCA refers to a group of ataxias that are Hereditary (caused by either a recessive or dominant gene) Known to cause harm to the cerebellum There are 40 types of SCA discovered so far. Each type is named SCA1, SCA2, and so on. The numbers indicate the order in which they were discovered. SCA3 is the most common type.

Spinocerebellar Ataxia, also known as spinocerebellar atrophy, or spinocerebellar degeneration is a genetic disease caused by either a recessive or dominant gene. It refers to a group of ataxias that are known to be hereditary and cause harm to the cerebellum, the part of the brain which maintains balance and controls movements. Spinocerebellar Ataxia may result in non-coordinated gait, impaired hand-eye coordination, and abnormal speech. Because this condition affects the nervous system, it is also referred to as a nervous disorder. Spinocerebellar Ataxia has no cure, but can be managed with a tailored Ataxia treatment program that includes Stem Cell Therapy.

Lorna Torrens, Elaine Burns, Jon Stone, Mary Porteous, Adam ... labile mood, aggressive outbursts, inflexibility. Case History - Examination. Mild limb ataxia ...

To develop technical skills such as fixing, embedding, cutting and staining ... not widened, indicating the localization of the disease to the posterior fossa. ...

Ataxia Prepared by:Manar Shawabkeh.M.D Supervisor : Afaf Areene.M.D Outline: Approach to the child with acute ataxia. Acute cerebellar ataxia .

The term ataxia denotes inability to make smooth, accurate and coordinated ... Cerebellar abscess. Viral encephalitis (brain stem). Labyrinthitis. II- ELECTRICAL ...

extensor plantar responses. Distal loss of joint position. Distal loss of vibration sense ... First autosomal recessive condition due to a dynamic repeat (1988) ...

some dystonic posturing of trunk and arms. apraxic movement of eyes. conjunctival telangiectasia ... regulation of muscle tone, posture and gait ...

Ataxia in Childhood a collection of clinical cases Childhood Ataxia 4 Clinical Case descriptions Cerebellum: Structure & Function Ataxia: Clinical Features ...

Nonmendelian Kal t m: Dinamik mutasyonlar Objectifler l nukleotid tekrarlar Fragil X sendromu, Friedreich s ataxia, Huntington s hastal ve ...

Ranum et. al., 1991, American Journal of Human Genetics, (49:31). Done in Harry Orr's lab. ... Genetics 1993. Dr. Harry Orr. Director, Institute of Human ...

It has academic use

Stem cell therapy offers the following advantages to those suffering from neurological disorders: Improved nerve protection and damage prevention Immunomodulation and reduction of inflammation Better symptoms management Faster injury reversal Improved quality of life Enhanced everyday functionality Prevention of further nerve damage Speedy post-procedure recovery

NEUROLOGY SUBSPECIALTY SEMINAR -SEP 29/2006 CEREBELLAR DISEASES ANATOMY Derived from the somatic afferent portion of the alar plate acts as a monitor or modulator of ...

Stem cells are undifferentiated and unique cells with the potential to develop into various specialized cell types in the body. They are capable of self-renewal and differentiation.

Stem cells are unspecialized cells of the human body. They can transform and/or multiply into specialized cells. Through a laboratory procedure known as differentiation stem cells procured from one part of the body can become/grow into other kinds of cells.

Abnormal movements in children Dr E Lubbe Prof I Smuts Dept Paediatrics PAH Myoclonus (simple, sudden, single) Physiological: Sleep myoclonus Startle responses (awake ...

... are characterized by high net charge and low hydrophobicity. ... ProtScale is used to calculate hydrophobicity. ProtParam. Global protein folding prediction ...

Stem cells are unspecialized cells of the human body. Procured from one part of the body, they can differentiate and become/grow into other kinds of cells, including specialized cells. Our body has the unique ability to self-heal. Illness, injury, or disease can disrupt this ability. Stem cells have the power to remind our body of its self-healing capabilities, and supports this process by growing/dividing into healthy cells that can replace the cells damaged by disease.

For educational purposes only. This presentation was done at University of Uyo Teaching Hospital, Nigeria on April 23rd, 2021.

Trinucleotide repeats (TNRs) Dr. Derakhshandeh, PhD INTRODUCTION Trinucleotide repeats (TNRs) are microsatellite sequences Disease-causing repeat instability is an ...

To understand how to localize lesions within the cerebellum on the basis of ... Fossa ... to 20% of posterior fossa tumor resections in children ...

With their unique ability to transform into various cell types, stem cells have transformed the field of regenerative medicine. They hold immense promise in treating a wide range of medical conditions and injuries by repairing or replacing damaged tissues and organs. From heart disease and neurological disorders to musculoskeletal injuries, the applications of stem cells can change the course of medical treatments. Let’s look at some examples

For educational purposes only.

Stem cells are undifferentiated and unique cells with the potential to develop into various specialized cell types in the body. They can be regarded as the building blocks of the body - capable of self-renewal and differentiation.

Presenile Dementia Mary Ellen Quiceno, M.D. Case #1 33 y.o. reported memory loss in 2000. In 2002, episodes of left-sided numbness & weakness. Febrile day prior to ...

Cerebellum External Configurations - located in posterior cranial fossa - tentorium cerebelli (cerebrum), 4th ventricle (brain stem)

CAG triplet repeat expansion in exon 1 of androgen receptor gene ... Female heterozygote carriers may have increased risk of breast cancer ...

hereditary optic neuropathies george papanikolaou singleton hospital swansea classification monosymptomatic familial neurologic syndromes multisystem disease 1:10,000 ...

Pediatric Neurogenetics Zheng (Jane) Fan, MD Medical Genetics Fellow UNC-CH 04/2006 What is Neurogenetics? Neurogenetics: the study of genetic factors that contribute ...

Copy URL | gooread.fileunlimited.club/pw23/1260026507 | PDF Pathophysiology of Disease: An Introduction to Clinical Medicine 8E 8th Edition Android Publisher's Note: Products purchased from Third Party sellers are not guaranteed by the publisher for quality, authenticity, or access to any online entitlements included with the product.A full-color case-based review of the essentials of pathophysiology covering all major organs and systemsMore than 130 case studies with Q&AA Doody’s Core Title for 2020! The goal of this trusted text is to introduce you to clinical medicine by reviewing the pathophysiologic basis of 132 diseases (and associated signs and symptoms) commonly encountered in medical practice. The authors, all experts in their respective fields, have provided a concise review of relevant normal structure and function of each body system, followed by a description of the pathophysiologic mechanisms that underlie several co

... traumatic spine injuries tumour multiple sclerosis vascular disorders spinal epidural hematoma/abscess auto immune disease herniated ...

The Spinal Cord Structure of the spinal cord Tracts of the spinal cord Spinal cord syndromes Nabeel Kouka, MD, DO, MBA www.brain101.info Spinal Cord ...

Migraine Tension headache Cluster headache Trigeminal Neuralgia Secondary headache Migraine Co-morbidities Epilepsy Stroke ...

CEREBELLUM AND VESTIBULOCOCHLEAR NERVE Prof. Sultan Ayoub Meo MBBS, M.Phil, Ph.D (Pak), M Med Ed (Dundee), FRCP (London), FRCP (Dublin), FRCP (Glasgow), FRCP (Edinburgh)

Double-blind, Randomized, Multi-Center Placebo-Controlled Trial of Varenicline in the Treatment of SCA-3 (Achantia) Theresa A. Zesiewicz, MD FAAN

Chapter 7 Somatosensory System Chris Rorden University of South Carolina Norman J. Arnold School of Public Health Department of Communication Sciences and Disorders

1. Which of the following is incorrect in regard to the Purkinje cell. ... A. Arcuate. B. Inferior olive. C. External cuneate. D. Lateral reticular ...

Pediatric Neurology Multi-topic Review and Questions. Lorraine Lazar, MD, PhD. Division of Child Neurology. Department of Pediatrics. Goryeb Children s Hospital

Cerebellum NMJ Brachial Plexus, Median, Radial, and Ulnar nerves Cerebellum [17 cm x 120cm] Anatomy Relation 3 Lobes Functional 4 deep nuclei fastigial Interposed x 2 ...

The Molecular Evolution of Gene Birth and Death Author: Ann Brokaw AP Biology Teacher Rocky River High School Rocky River, Ohio

Instability: Mutation and DNA repair. Different mutation rates in primates and rodents ... Instability: Mutation and DNA repair. Mobile elements and mutations ...

... Kearns-Sayre syndrome Peroxisomal disorders Refsum disease, Adrenoleukodystrophy Lysosomal storage diseases Krabbe s disease, Metachromatic leukodystophy, ...

Wagstaff Research Fellow in Otolaryngology (Royal Victorian Eye & Ear Hospital) ... Lebers Hereditary Optic Neuropathy (LHON) Autosomal Dominant Optic Atrophy (ADOA) ...

L. No l de Tilly - Medical Imaging. G. Midroni - Division of Neurology ... Schirmer's test, performed without anaesthesia ( 5 mm in 5 minutes) ...

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Kovtun IV & McMurray CT (2001) Trinucleotide repeat expansion ... GABAnergic efferent projection neurons lost in:- Cortex. Hypothalamus. Cerebellum. Genetics of HD ...

... WGS Represents a Sea-Change in Clinical Laboratory ... information for future Receive medically actionable ... DNA SEQUENCING AND WHOLE ...

Title: Chapter 9 MUSCLE TISSUE Author: FBinstruct Last modified by: asus Created Date: 10/13/2003 9:25:35 PM Document presentation format: On-screen Show (4:3)

Voltage-Gated Ion Channels in Health and Disease jdk3 Principles of Neural Science, chapter 9 Voltage-Gated Ion Channels in Health and Disease Squid Giant Axon ...

Instability: Mutation and DNA repair Mutations DNA repair What are SINEs? 1. Interspersed Elements 2. 70 - 300 Bases in Length 3. Very High Copy Numbers (100,000 ...

... Continous unsustained rapid abrupt and random contractures Small fidgety movements Distal muscles involved CAUSES Huntingtons disease Drugs Rx of ...

PowerPoint Presentation

BB30055: Genes and genomes Genomes - Dr. MV Hejmadi (bssmvh@bath.ac.uk) Lecture 2 Repeat elements Repetitive elements Significance Evolutionary signposts ...