Syndrome mimicking ataxia telangiectasia. Medical search. Frequent questions

Ataxia oculomotor apraxia-1 is a neurological disorder caused by mutations in the APTX gene that encodes aprataxin. (wikipedia.org)

Although the clinical features are somewhat similar among patients, the predisposing abnormalities of lymphocyte-mediated immune function stem from a heterogeneous group of childhood immunodeficiency syndromes. (medscape.com)

Early signs of AML often mimic symptoms of the flu, such as fever, fatigue, loss of appetite, bone pain, and shortness of breath. (shebaonline.org)
Because the adrenal glands influence many parts of the body and systems, symptoms of adrenal fatigue can mimic many symptoms and health problems that are often misdiagnosed. (fullhealthsecrets.com)

Chédiak-Higashi syndrome (CHS) is an autosomal recessive disorder characterized by severe immunodeficiency, bleeding tendency, frequent bacterial infections, variable albinism, and progressive neurologic dysfunction. (medscape.com)
Spinocerebellar ataxia type 35 (SCA35) is a rare, autosomal dominant neurodegenerative disorder associated with mutations in TGM6 gene that encode the protein transglutaminase 6 (TG6). (ataxia.org)

The main goal of our project is the development of a powerful genetic model to investigate pathogenesis of spinocerebellar ataxia with axonal neuropathy-1 (SCAN-1) disease. (ataxia.org)
It is organized into sections by subtype of condition (e.g., infections, genetic syndromes, medication-caused) and includes a section of variants of acne that may be misdiagnosed. (nshealth.ca)
Genetic Syndromes Mimicking Acne Vulgaris -- 25. (nshealth.ca)

The Bloom syndrome gene (BLM) encodes a RecQ-like DNA helicase. (lookformedical.com)

Common variable immune deficiency (CVID) encompasses a group of hypogammaglobulinemia syndromes in which patients have reduced serum concentrations of immunoglobulin G (IgG), IgA, and usually IgM, together with loss of protective antibodies and an increased incidence of lymphoreticular malignancies. (medscape.com)
Approximately 30% of children with CVID have splenomegaly, diffuse adenopathy, and even extranodal infiltration into intestinal tissue that mimics lymphoma. (medscape.com)
These conditions are now recognized as fitting the categories of hyper-IgM syndromes and common variable immunodeficiency (CVID). (medscape.com)

If the dish is too crowded, rad3 is similar at the sequence level to ATM, mutations in which lead to poxitions of the disease ataxia telangiectasia in humans. (top5binarybrokers.com)
A direct link between DNA DSBs, genomic instability, and cancer is evidenced the fact that many cancer-predisposition syndromes in humans characterized by genomic instability are caused by mutations in DSB-responsive genes ( 16 , 17 ). (amegroups.org)

Parkinsonism is a clinical syndrome characterized by tremor , bradykinesia (slowed movements), rigidity , and postural instability . (wikipedia.org)
Here we review single gene disorders that have the potential to mimic multiple sclerosis, provide an overview of clinical and investigational characteristics of each disorder, and present guidelines for when clinicians should suspect an underlying heritable disorder that requires diagnostic confirmation in a patient with a definite or probable diagnosis of multiple sclerosis. (medscape.com)

These inherited, acquired, or iatrogenically induced immunodeficiency syndromes predispose the person to the formation of a pool of lymphocytes that proliferate unchecked, that infiltrate various lymphoid organs, and that have the distinct ability to undergo malignant transformation into true lymphoid malignancies. (medscape.com)
Boys with X-linked immunodeficiency syndrome are at high risk for mortality associated with EBV infections and are predisposed to develop lymphoproliferative disorders and lymphoma. (medscape.com)
1. AIDS: Acquired immune deficiency syndrome Acquired immunodeficiency syndrome 2. (cdc.gov)
It is characterized by progressive immune abnormalities ranging from severe to nonsevere combined immunodeficiency ( table 1 ) and neurologic symptomatology that includes ataxia, developmental delay, and spasticity. (medilib.ir)

This, in turn, establishes chronic inflammation and tissue pathology in mice with important ramifications for DNA repair-deficient, progeroid syndromes and aging. (nature.com)
Using mice with an engineered ERCC1-XPF defect in tissue-infiltrating macrophages, we provide evidence for a fundamental mechanism by which irreparable DNA damage triggers an exosome-based, metabolic reprogramming that leads to chronic inflammation and tissue pathology in NER progeroid syndromes and likely also during aging. (nature.com)

Mutations in this gene have been associated with ataxia-ocular apraxia. (wikipedia.org)

Usually the cause is apparent, but apparent benign neutrophilia can be mimicked by chronic neutrophilic leukemia or chronic myeloid leukemia. (msdmanuals.com)

1976) suggested that 2 distinct syndromes are subsumed under the designation pachyonychia congenita. (findzebra.com)

Enzyme replacement therapy (ERT) appears safe and effective for peripheral manifestations in patients with Gaucher disease types I and III, Fabry disease, mucopolysaccharidosis I (Hurler, Hurler-Scheie, and Scheie syndromes), mucopolysaccharidosis II (Hunter syndrome), mucopolysaccharidosis VI (Maroteaux-Lamy syndrome), Pompe disease, and recently Batten disease (neuronal ceroid lipofuscinoses, CLN2). (medscape.com)
Enzyme replacement therapy (ERT) appears safe and effective for peripheral manifestations in patients with Gaucher disease types I and III, Fabry disease, mucopolysaccharidosis I (Hurler, Hurler-Scheie, and Scheie syndromes), mucopolysaccharidosis II (Hunter syndrome), mucopolysaccharidosis VI (Maroteaux-Lamy syndrome), and Pompe disease. (medscape.com)

Despite undeniable progresses in the knowledge concerning the molecular pathology of Machado- Joseph disease (MJD)/Spinocerebellar ataxia type 3 (SCA3), therapeutic compounds remain to be discovered and validated. (ataxia.org)
AIDS-like syndrome: AIDS-like disease (illness) (syndrome) ARC AIDS-related complex Pre-AIDS AIDS-related conditions Prodromal-AIDS 3. (cdc.gov)

Constitutional syndromes such as Down syndrome and ataxia-telangiectasia are associated with increased risk of B-cell-ALL (with CRLF2 rearrangement) and T-cell-ALL, respectively. (haematologica.org)

Familial cancer syndromes such as Li-Fraumeni syndrome, constitutional mismatch repair deficiency syndrome, or DNA repair syndromes (e.g. (haematologica.org)

This approach would create a fruit fly model that mimics the human pathological condition. (ataxia.org)

This result was also confirmed in vitro , both through luciferase assay and by analyzing endogenous levels of SMARCA5 in MCF-7 cell lines using miR-151-5p mimic and inhibitor. (oncotarget.com)

Mutations in this gene have been associated with ataxia-ocular apraxia. (wikipedia.org)
10. Ataxia-ocular motor apraxia syndrome: an investigation of cellular radiosensitivity of patients and their families. (nih.gov)
11. Ataxia-ocular motor apraxia: a syndrome mimicking ataxia-telangiectasia. (nih.gov)
12. Recessive ataxia with ocular apraxia: review of 22 Portuguese patients. (nih.gov)
17. Spinocerebellar ataxia with ocular motor apraxia and DNA repair. (nih.gov)
19. Early-onset ataxia with ocular motor apraxia and hypoalbuminemia: the aprataxin gene mutations. (nih.gov)

6. Autosomal recessive cerebellar ataxia with oculomotor apraxia (ataxia-telangiectasia-like syndrome) is linked to chromosome 9q34. (nih.gov)

2. Ataxia without telangiectasia masquerading as benign hereditary chorea. (nih.gov)
15. Progressive cerebellar atrophy: hereditary ataxias and disorders with spinocerebellar degeneration. (nih.gov)
Multiple telangiectasia, Raynaud's phenomenon, sclerodactyly, and subcutaneous calcinosis: A syndrome mimicking hereditary hemorrhagic telangiectasia. (medscape.com)

Here, we report the clinical and cellular phenotypes associated with a newly identified homozygous nonsense mutation in the RNF168 gene of a patient with a syndrome mimicking ataxia-telangiectasia. (nih.gov)
This immunodeficiency syndrome is caused by a defect in the BTK gene, a member of the SRC gene family localized to Xq21.3-Xq22. (medscape.com)
MRE11, RAD50, and NBS1 form the MRN complex in response to DNA damage to activate ATM, a gene responsible for Ataxia-Telangiectasia (A-T). Loss of any components of the MRN complex compromises cell life. (bvsalud.org)
Dgkκ silencing in WT mouse is sufficient to mimick FXS phenotypes while its overexpression corrects abnormal dendritic spines in Fmr1-KO neurons.Based on these data, we tested the targeting of DGK by pharmaceutical and gene-therapy approaches. (wats-on.co.uk)
During my PhD I work on the development of two therapeutics approaches for the Fragile X syndrome, one using a pharmacological compound and another using gene therapy by adeno-associated virus. (wats-on.co.uk)

Mutations in MRE11, RAD50, and NBS1 cause human genomic instability syndromes Ataxia-Telangiectasia-like disorder (A-TLD), NBS-like disorder (NBSLD), and Nijmegen Breakage Syndrome (NBS), respectively. (bvsalud.org)
For this reason, we used the human being mammary epithelial cell model (HMEC), which mimics the genomic events driving malignant progression in the breast [18, 19]. (ipa2014.org)

The CNS manifestations can mimic transverse myelitis or multiple sclerosis. (neupsykey.com)

Usually the cause is apparent, but apparent benign neutrophilia can be mimicked by chronic neutrophilic leukemia or chronic myeloid leukemia. (msdmanuals.com)

Friedreich ataxia (FRDA) is characterized by slowly progressive ataxia with onset usually before age 25 years (mean age at onset: 10-15 yrs). (nih.gov)

B-cell neoplasms tend to mimic stages of normal B-cell differentiation, and the resemblance to normal cell stages is a major basis for their classification and nomenclature. (medscape.com)

Myelodysplastic syndromes Myelodysplastic Syndrome (MDS) are a group of clonal hematopoietic stem cell disorders unified by the presence of distinct mutations of hematopoietic stem cells. (msdmanuals.com)
Neurocutaneous syndromes (phakomatoses) are a diverse class of congenital disorders that affect organs of ectodermal origin, especially the skin , the central nervous system , and the eyes. (amboss.com)
The disorders most typically included in this class are neurofibromatosis type 1 ( NF type 1 , von Recklinghausen syndrome ), neurofibromatosis type 2 ( NF type 2 ) , tuberous sclerosis , von Hippel-Lindau syndrome, Sturge-Weber syndrome, and ataxia telangiectasia . (amboss.com)
With the exception of Sturge-Weber syndrome, which is caused by a noninherited developmental anomaly of neural crest derivatives , and ataxia telangiectasia , which follows an autosomal recessive inheritance pattern, neurocutaneous syndromes disorders follow an autosomal dominant inheritance pattern, although spontaneous mutations are also possible. (amboss.com)

13. Autosomal recessive cerebellar ataxias. (nih.gov)

After completing a Master's degree in Physiopathology at Strasbourg University, France, I started my PhD in the field of Fragile X syndrome in 2016 at the IGBMC (institut de génétique et de biologie moléculaire) in Illkirch, France. (wats-on.co.uk)

Isolation of a T-lymphotropic retrovirus from a patient at risk for acquired immune deficiency syndrome (AIDS). (academicinfluence.com)
1. AIDS: Acquired immune deficiency syndrome Acquired immunodeficiency syndrome 2. (cdc.gov)

PMID- 5097502 TI - A pericentric inversion, 5 p-q+, and additional complex rearrangements in a case of cri-du-chat syndrome. (nih.gov)

Autoimmune lymphoproliferative syndrome (ALPS): ALPS is characterized by lymphoproliferative disorder, autoimmune cytopenias, and a susceptibility to malignancy. (medscape.com)

syndrome out the imaging Onset in the Chrome Store. (reconcile-int.org)

Although the clinical features are somewhat similar among patients, the predisposing abnormalities of lymphocyte-mediated immune function stems from a heterogeneous group of childhood immunodeficiency syndromes. (medscape.com)

Sensory examination demonstrates severe vibratory and proprioceptive loss leading to sensory ataxia. (neupsykey.com)

tandem lesions generally have a worse prognosis (multiple M2 occlusions may clinically mimic M1 occlusion, etc. (stroke-manual.com)

16 , 17 Necrotizing vasculitis may be responsible for as many as one-third of the cases of neuropathy associated with Sjögren syndrome. (neupsykey.com)

Adigun R, Bhimji S. Systemic Sclerosis (CREST syndrome). (medscape.com)

Sjögren syndrome can be complicated by central nervous system (CNS) and peripheral nervous system (PNS) involvement. (neupsykey.com)

Calcinosis in scleroderma: A reevaluation of the CRST syndrome, abstracted. (medscape.com)

Mortality and morbidity in children vary considerably and depend on the underlying immunodeficiency syndrome. (medscape.com)

Sjögren syndrome is characterized by the sicca complex: xerophthalmia (dry eyes), xerostomia (dry mouth), and dryness of other mucous membranes. (neupsykey.com)

Anatomy14

Organisms3

Diseases44

Chemicals and Drugs49

Analytical, Diagnostic and Therapeutic Techniques and Equipment11

Phenomena and Processes56

Information Science3

Health Care3

Oculomotor apraxia1

Heterogeneous group1

Symptoms2

Autosomal2

Genetic3

Encodes1

CVID3

Humans2

Clinical2

Immunodeficiency4

Tissue2

Mutations1

Chronic1

Distinct1

Patients2

Disease2

Risk1

Repair1

Condition1

Cell1

Ocular6

Cerebellar ataxia1

Hereditary3

Gene5

Genomic2

Transverse myelitis1

Benign1

Friedreich1

Neoplasms1

Disorders4

Autosomal1

20161

Deficiency2

PMID1

Disorder1

Onset1

Clinical features1

Vibratory1

Multiple1

Vasculitis1

Systemic1

Peripheral1

Scleroderma1

Children1

Complex1