scholarly journals The neurological symptoms clinical diagnostics role in patients with genetic diseases

2019 ◽  
Vol 41 part 3 (2) ◽  
pp. 69-73
Author(s):  
M. A. Trishchynskaya ◽  
V. A. Svystilnyk
Keyword(s):  
Behavior Disorders ◽  
Clinical Characteristics ◽  
Glucose Transporter ◽  
Clinical Symptoms ◽  
Genetic Diseases ◽  
Deficiency Syndrome ◽  
Clinical Diagnostics ◽  
Neurological Symptoms ◽  
Differential Diagnostics ◽  
Type I

The purpose of the study. The aim of the publication was to make analysis neurological symptoms peculiarities in patients with the glucose transporter type I deficiency syndrome and to make differential diagnostics with other diseases. There are main clinical symptoms in the patients with glucose transporter type I deficiency syndrome. They include attacks of seizures, movement disorders: paresis, plegia, paroxysmal induced dyskinesias, ballismus, tremor, athetosis, dystonia, ataxia. The glucose transporter type I deficiency syndrome clinical characteristics have been added by the delays of the movement, cognitive development, behavior disorders, head ache. Hardness of the clinical symptoms may fluctuate during a day and depends from the period of eating. The plan for differentiation diagnostics and identification of the neurodegenerative diseases was presented in the article. Keywords:neurodegenerative diseases diagnostics, glucose transporter type I deficiency syndrome.

Analysis of craniofacial character of glucose transporter type I deficiency syndrome

2019 ◽  
Vol 78 (4) ◽  
pp. 151-159
Author(s):  
Shinsuke Itoh ◽  
Hiroshi Kurosaka ◽  
Yuka Murata ◽  
Chisato Morita ◽  
Kuriko Kagitani-Shimono ◽  
...  
Keyword(s):  
Glucose Transporter ◽  
Deficiency Syndrome ◽  
Type I

scholarly journals Glucose Transporter 1 deficiency and associated conditions in children

2019 ◽  
Vol 64 (5) ◽  
pp. 155-158
Author(s):  
R. G. Gamirova ◽  
Z. Afawi ◽  
R. R. Gamirova ◽  
E. A. Gorobets ◽  
V. F. Prusakov ◽  
...  
Keyword(s):  
Glucose Transporter ◽  
Early Stage ◽  
Pathological Condition ◽  
Clinical Manifestations ◽  
Deficiency Syndrome ◽  
Psychomotor Retardation ◽  
Type I ◽  
Effective Treatment Option ◽  
Glucose Transporter 1 ◽  
Slc2a1 Gene

The article reviews literature devoted to the glucose transporter type I deficiency syndrome (synonyms: GLUT1 deficiency syndrome, de Vivo disease), that is a genetically determined disease caused by pathogenic variants of the SLC2A1 gene. The insufficiency of this protein leads to the disruption of glucose delivery to the brain through the blood-brain barrier. Clinically, the syndrome is manifested by epileptic seizures (mainly as absences or myoclonic seizures), various motor disorders and psychomotor retardation starting from the early age.Early diagnosis (including molecular genetic analysis of the SLC2A1 gene) enables us to start treatment and prevent progression of the symptoms, and to provide the family with genetic consultation on the prognosis and risks for the next generations. Ketogenic diet is an effective treatment option for this pathological condition, it can lead to a regression of the clinical manifestations, especially on the early stage.

scholarly journals Glucose transporter type I deficiency syndrome: Epilepsy phenotypes and outcomes

Epilepsia ◽  
2012 ◽  
Vol 53 (9) ◽  
pp. 1503-1510 ◽  
Author(s):  
Amanda W. Pong ◽  
Brianna R. Geary ◽  
Kris M. Engelstad ◽  
Ashwini Natarajan ◽  
Hong Yang ◽  
...  
Keyword(s):  
Glucose Transporter ◽  
Deficiency Syndrome ◽  
Type I

Another Case of Glucose Transporter 1 Deficiency Syndrome with Periventricular Calcification, Cataracts, Hemolysis, and Pseudohyperkalemia

2017 ◽  
Vol 48 (05) ◽  
pp. 390-393 ◽  
Author(s):  
Katsuhiro Kobayashi ◽  
Harumi Yoshinaga ◽  
Hiroaki Ono ◽  
Michiko Shinpo ◽  
Kuriko Kagitani-Shimono ◽  
...  
Keyword(s):  
Glucose Transporter ◽  
Clinical Symptoms ◽  
Laboratory Data ◽  
Diet Therapy ◽  
Deficiency Syndrome ◽  
Clinical Findings ◽  
Red Cell Membrane ◽  
Glucose Transporter 1 ◽  
Eeg Abnormalities ◽  
Slc2a1 Gene

AbstractGlucose transporter 1 (GLUT1) deficiency syndrome (GLUT1DS) is a disorder resulting from shortage of energy in the brain caused by reduced GLUT1 activity. Its common clinical symptoms include seizures, microcephaly, intellectual disability, abnormal ocular movements, ataxia, and dystonia. We report a case of GLUT1DS with unusual symptoms, including periventricular calcification. The patient is a Japanese girl, whose seizures had always evolved into status epilepticus since she was 4 months old. She also had cataracts and horizontal nystagmus. Neuroimaging studies showed periventricular calcification and brain atrophy. Laboratory data revealed pseudohyperkalemia, reticulocyte increase, and hypoglycorrhachia. A mutation of c1306_1308delATC (p.Ile436del) was identified in the SLC2A1 gene, and she was thus diagnosed with GLUT1DS. A case with the identical SLC2A1 gene mutation and similar clinical findings was previously reported by Bawazir et al (2012). The leak of monovalent cations through the red cell membrane causes hemolysis in such patients, and a similar phenomenon may occur at the blood–brain barrier and the lens epithelium. After commencing ketogenic diet therapy, the electroencephalogram (EEG) abnormalities improved markedly and the patient's development advanced. Clinicians should be aware of atypical GLUT1DS.

Cerebellar Ataxia

2016 ◽  
pp. 333-346
Author(s):  
Christopher H. Hawkes ◽  
Kapil D. Sethi ◽  
Thomas R. Swift
Keyword(s):  
Cerebellar Ataxia ◽  
Spinocerebellar Ataxia ◽  
Glucose Transporter ◽  
Autosomal Dominant ◽  
Coenzyme Q ◽  
Deficiency Syndrome ◽  
Type I ◽  
Progressive Cerebellar Ataxia ◽  
Cerebellar Gait Ataxia ◽  
Inherited Ataxias

This chapter deals with disorders of the cerebellum and its connections. These conditions may be identified by the mode of onset—whether acute, subacute, chronic, or episodic. The chronic ataxias are inherited in various patterns: autosomal dominant; autosomal recessive; X-linked. Autosomal dominant inherited ataxias discussed include spinocerebellar ataxia, autosomal dominant episodic ataxia, and glucose transporter type I deficiency syndrome. Some episodic ataxias have variable inheritance. Other episodic ataxias without a clear genetic basis are detailed including mitochondrial spinocerebellar ataxia and epilepsy; coenzyme Q deficiency; progressive cerebellar ataxia with palatal tremor; and progressive cerebellar gait ataxia, myoclonic epilepsy, and intention tremor. Also various disorders associated with ataxia are enumerated.

Experience in the Use of a Ketogenic Diet in a Patient with Type I Glucose Transporter Deficiency Syndrome (clinical observations)

2016 ◽  
Vol 46 (9) ◽  
pp. 1090-1096
Author(s):  
E. G. Luk’yanova ◽  
S. O. Aivazyan ◽  
K. V. Osipova ◽  
E. A. Pyr’eva ◽  
T. N. Sorvacheva
Keyword(s):  
Ketogenic Diet ◽  
Glucose Transporter ◽  
Deficiency Syndrome ◽  
Type I ◽  
Clinical Observations ◽  
Transporter Deficiency

GLUCOSE TRANSPORTER TYPE I DEFICIENCY SYNDROME (GLUT 1 DS)

2006 ◽  
Vol 37 (S 1) ◽  
Author(s):  
DC De Vivo ◽  
D Wang ◽  
J Pascual
Keyword(s):  
Glucose Transporter ◽  
Deficiency Syndrome ◽  
Type I ◽  
Glut 1

scholarly journals Towards Similarity-based Differential Diagnostics For Common Diseases

2021 ◽  
Author(s):  
Luke T Slater ◽  
Andreas Karwath ◽  
John A Williams ◽  
Sophie Russell ◽  
Silver Makepeace ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Semantic Similarity ◽  
Genetic Diseases ◽  
Clinical Diagnostics ◽  
Differential Diagnostics ◽  
Common Diseases ◽  
Rare Genetic Diseases ◽  
Disease Similarity ◽  
Clinical Narrative ◽  
Diagnostic Hypothesis

AbstractOntology-based phenotype profiles have been utilised for the purpose of differential diagnosis of rare genetic diseases, and for decision support in specific disease domains. Particularly, semantic similarity facilitates diagnostic hypothesis generation through comparison with disease phenotype profiles. However, the approach has not been applied for differential diagnosis of common diseases, or generalised clinical diagnostics from uncurated text-derived phenotypes. In this work, we describe the development of an approach for deriving patient phenotype profiles from clinical narrative text, and apply this to text associated with MIMIC-III patient visits. We then explore the use of semantic similarity with those text-derived phenotypes to classify primary patient diagnosis, comparing the use of patient-patient similarity and patient-disease similarity using phenotype-disease profiles previously mined from literature. The results reveal a potentially powerful approach that can be applied to a variety of clinical tasks, such as differential diagnosis, cohort discovery, document and text classification, and outcome prediction.

Hydrocephalus in Spinal Muscular Atrophy: A Case Report and Review of the Literature

2020 ◽  
Author(s):  
Jeetendra P. Sah ◽  
Aaron W. Abrams ◽  
Geetha Chari ◽  
Craig Linden ◽  
Yaacov Anziska
Keyword(s):  
Spinal Muscular Atrophy ◽  
Clinical Characteristics ◽  
Clinical Presentation ◽  
Muscular Atrophy ◽  
Communicating Hydrocephalus ◽  
Type I ◽  
Review Of The Literature ◽  
Radiographic Findings ◽  
Comprehensive Review ◽  
The Relationship

AbstractIn this article, we reported a case of spinal muscular atrophy (SMA) type I noted to have tetraventricular hydrocephalus with Blake's pouch cyst at 8 months of age following intrathecal nusinersen therapy. The association of hydrocephalus with SMA is rarely reported in the literature. Development of hydrocephalus after intrathecal nusinersen therapy is also reported in some cases, but a cause–effect relationship is not yet established. The aim of this study was to describe the clinical characteristics of a patient with SMA type I and hydrocephalus, to review similar cases reported in the literature, and to explore the relationship between nusinersen therapy and development of hydrocephalus. The clinical presentation and radiographic findings of the patient are described and a comprehensive review of the literature was conducted. The adverse effect of communicating hydrocephalus related to nusinersen therapy is being reported and the authors suggest carefully monitoring for features of hydrocephalus developing during the course of nusinersen therapy.

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