Chorea is present at onset in 80% of patients and upper limb dystonia (see this term) occurs in about 50% of individuals. [orpha.net]

They commonly present during adulthood, but less commonly can present during childhood. The family history of autosomal dominant ataxia is the key determining factor. [lecturio.com]

Telangiectasias develop from about the age of 3 years and may not be present until the age of 10 years, but will be present in all cases. [patient.info]

These patients present with gait ataxia usually with headache and papilledema. Progressive hydrocephalus can also present with subacute-onset ataxia. [jpgmonline.com]

Acronym AOA Synonyms AOA1 Ataxia early-onset with oculomotor apraxia and hypoalbuminemia Ataxia-oculomotor apraxia 1 Cerebellar ataxia early-onset with hypoalbuminemia EAOH EOCA-HA Keywords Disclaimer Any medical or genetic information present in this [uniprot.org]

• Fishing

  Intracellular Digestion Cell Nucleus Cell Division Photosynthesis Cell Respiration Protein Synthesis Microbiology Bacteria Protists Fungi Viruses Zoology Life Kingdoms Poriferans Cnidarians Flatworms Roundworms Annelids Arthropods Molluscs Echinoderms Chordates Fish [biology-questions-and-answers.com]

• Anosmia

  Other additional features include anosmia, deafness, cardiomyopathy, ichthyosis and skeletal abnormalities. The disorder is genetically heterogeneous since it has been mapped to two different loci. [wjgnet.com]

• Ataxia

  ataxia and ataxia–telangiectasia (A–T) ( Di Donato et al ., 2001 ). [academic.oup.com]

  The features include early childhood onset of ataxia and oculomotor apraxia, mimicking ataxia telangiectasia but without the extraneurologic findings of ataxia telangiectasia. [ncbi.nlm.nih.gov]

  These hereditary ataxias include Freidreich ataxia (FDRA), spinocerebellar ataxia, and ataxia with oculomotor apraxias types 1 (AOA1) and 2 (AOA2). [1] FDRA is a recessive ataxia characterized by a mutation on chromosome 9q13. [2] It consists of a repeated [annalsofian.org]

• Apraxia

  Abstract Ataxia-oculomotor apraxia is a distinct entity first comprehensively described in 1988. [ncbi.nlm.nih.gov]

  Pathways for Ataxia-Oculomotor Apraxia 3 GO Terms for Ataxia-Oculomotor Apraxia 3 Sources for Ataxia-Oculomotor Apraxia 3 [malacards.org]

  AOA includes ataxia telangiectasia (AT), ataxia telangiectasia like disorder (ATLD), ataxia oculomotor apraxia type 1 (AOA1) and ataxia oculomotor apraxia type 2 (AOA2). [genome.jp]

• Cerebellar Ataxia

  Introduction Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of diseases. [academic.oup.com]

  […] pantothenate kinase-associated neurodegeneration Autosomal dominant cerebellar ataxia Autosomal dominant cerebellar ataxia type I Autosomal dominant cerebellar ataxia type II Autosomal dominant cerebellar ataxia type III Autosomal dominant cerebellar [se-atlas.de]

  Acronym AOA Synonyms AOA1 Ataxia early-onset with oculomotor apraxia and hypoalbuminemia Ataxia-oculomotor apraxia 1 Cerebellar ataxia early-onset with hypoalbuminemia EAOH EOCA-HA Keywords Disclaimer Any medical or genetic information present in this [uniprot.org]

  In a cohort of 227 patients mostly of French origin with progressive cerebellar ataxia selected after exclusion of Friedreich ataxia (see this term), the relative frequency of AOA1 was of 5%. [orpha.net]

  Autosomal dominant cerebellar ataxia type II represents cerebellar ataxia with pigmentary retinal degeneration. Autosomal dominant cerebellar ataxia type III produces relatively pure cerebellar signs. [medlink.com]

• Peripheral Neuropathy

  Three patients with AOA1 were identified in an APTX mutation screening on 28 Southern Italian patients with progressive ataxia and peripheral neuropathy. [neurology.org]

  Later, peripheral axonal motor neuropathy dominates the clinical picture. [orpha.net]

  Format Definition An autosomal recessive syndrome characterized by early-onset cerebellar ataxia, oculomotor apraxia, early areflexia and late peripheral neuropathy. [uniprot.org]

  No patient was lacking both peripheral neuropathy and cerebellar atrophy. [lib.ugent.be]

  Management Supportive—e.g., physical therapy for disabilities due to peripheral neuropathy, assistive devices as needed, educational support. [medical-dictionary.thefreedictionary.com]

• Areflexia

  Affiliated tissues include eye, and related phenotypes are nystagmus and dysarthria UniProtKB/Swiss-Prot : 76 Ataxia-oculomotor apraxia 3: An autosomal recessive disease characterized by cerebellar ataxia, oculomotor apraxia, areflexia and peripheral [malacards.org]

  Format Definition An autosomal recessive syndrome characterized by early-onset cerebellar ataxia, oculomotor apraxia, early areflexia and late peripheral neuropathy. [uniprot.org]

  The disease is characterized by ataxia, dysmetria, peripheral neuropathy, areflexia, cerebellar atrophy, oculomotor apraxia and raised alpha-fetoprotein levels. [cags.org.ae]

  Ataxia, areflexia, and ocular muscle paralyses are also featured in the Fisher syndrome. [pediatricneurologybriefs.com]

  AOA1 is primarily caused by mutations in APTX, while AOA2 is caused by mutations in the SETX gene. 1 The major clinical features of AOA1 include the following: Cerebellar ataxia, oculomotor apraxia, and areflexia Childhood onset Slow progression leading [centogene.com]

Figure 3 shows the workup leading to AOA1, AOA2 and AT diagnosis in view of the results of our study and previous reports18. Figure 3 Workup leading to AOA1, AOA2 and AT diagnosis in view of the results of our study and previous reports. [nature.com]

• Hypoalbuminemia

  Acronym AOA Synonyms AOA1 Ataxia early-onset with oculomotor apraxia and hypoalbuminemia Ataxia-oculomotor apraxia 1 Cerebellar ataxia early-onset with hypoalbuminemia EAOH EOCA-HA Keywords Disclaimer Any medical or genetic information present in this [uniprot.org]

  Familial early onset cerebellar ataxia with hypoalbuminemia. No To Shinkei. 1995;47:289–94. [ncbi.nlm.nih.gov]

  : Familial early onset cerebellar ataxia with hypoalbuminemia. No To Shinkei 1995, 47 :289–294. PubMed Google Scholar 22. [link.springer.com]

  Hypoalbuminemia and hypercholesterolemia are usual (disease duration is positively correlated with cholesterol and negatively correlated with albumin levels). Diagnosis is confirmed by molecular analysis of APTX gene. [orpha.net]

  It is associated with peripheral axonal neuropathy and hypoalbuminemia. Gait imbalance is usually the first symptom followed by upper limb dysmetria. [disorders.eyes.arizona.edu]

• Hypercholesterolemia

  Hypoalbuminemia and hypercholesterolemia are usual (disease duration is positively correlated with cholesterol and negatively correlated with albumin levels). Diagnosis is confirmed by molecular analysis of APTX gene. [orpha.net]

  AOA1 is typically characterized by early-onset cerebellar ataxia, oculomotor apraxia, hypoalbuminemia, hypercholesterolemia and late axonal sensori-motor neuropathy. [genome.jp]

  Additional features Hypoalbuminemia and hypercholesterolemia are found in AOA1, whereas elevated levels of alpha-fetoprotein (AFP) and protein creatine phosphokinase (CPK) may be found in AOA2. [bredagenetics.com]

  It is an autosomal recessive cerebellar ataxia (ARCA) associated with hypoalbuminemia and hypercholesterolemia. Mutations in the gene APTX, which encodes for aprataxin, have been identified to be responsible for AOA1. [en.wikipedia.org]

  In AOA1, hypercholesterolemia and hypoalbuminemia are more common. Differential diagnosis with ataxia-telangiectasia may be more difficult, because AFP is increased in both this disease and AOA2. [jamanetwork.com]

Management and treatment No specific treatment exists for AOA1 and management is mainly supportive. [orpha.net]

Coverage includes major updates on genetics of diseases, new diagnostic techniques, and the newest treatment options. [books.google.de]

Attendance at a regular school is most often possible. treatment No causal treatment available. Symptomatic therapy of ataxia with physiotherapy and treatment of chronic renal failure. sources Betz R, Rensing C, Otto E, et al. [neocyst.de]

In some cases, there is no cure but treatment may help with symptoms. NIH: National Institute of Neurological Disorders and Stroke [medlineplus.gov]

Correct clinical and genetic diagnosis is important for appropriate genetic counseling and prognosis and, in some instances, pharmacological treatment. [orpha.net]

Exact pathomechanism not clear. progress and prognosis Jerky movements of the head as well as muscular hypotonia and ataxic gait improve with age. Attendance at a regular school is most often possible. treatment No causal treatment available. [neocyst.de]

There are few reports of the long-term prognosis of children born with OMA. The head thrusts associated with OMA typically diminish over time, but tend not to completely disappear. [aapos.org]

Prognosis The saccadic problem usually but not always improves with age. [neuroophthalmology.ca]

She divided those with a known etiology (eg, abetalipoproteinemia, ataxia telangiectasia) from those whose etiology was unknown (eg, Friedreich ataxia, Ramsay Hunt syndrome, cerebellar ataxia with retinal degeneration). [medlink.com]

Etiology These diseases are caused by mutations in specific genes, some of which have been identified, such as frataxin in Friedreich ataxia, alpha-tocopherol transfer protein in ataxia with vitamin E deficiency (AVED), aprataxin in ataxia with oculomotor [orpha.net]

Regardless of etiologies, the area in brain which is usually affected remains to be superior parietal lobule (SPL) which is located in the parieto-occipital junction [2]. [ijsronline.net]

The etiology of OMA is usually not determined and considered idiopathic. However, the condition is sometimes considered secondary and attributed to insults occurring either during the perinatal period or the first 6 months of life. [bredagenetics.com]

Summary Epidemiology This group encompasses a large number of rare diseases, the most frequent in the Caucasian population being Friedreich ataxia (estimated prevalence 2-4/100,000), ataxia-telangiectasia (1-2.5/100,000) and early onset cerebellar ataxia [orpha.net]

[…] phenotypic heterogeneity, both in clinical presentation (particularly in susceptibility to pulmonary infection, presence and degree of cognitive impairment and predisposition to leukaemia) and rate of progression, reflecting allelic diversity. [ 6 ] Epidemiology [patient.info]

An epidemiological study was conducted on 72 Italian AT families from the Italian Registry for Ataxia Telangiectasia applying the Dahlberg’s formula. [raredisorders.imedpub.com]

Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management. Neurogenetics 11, 1–12 (2010). [nature.com]

• Researchers are rapidly learning about the underlying pathophysiology behind the inherited ataxia syndromes. [medlink.com]

Etiology Ataxia telangiectasia is caused by biallelic mutations in the ATM gene Pathophysiology The ATM gene is a controller of the cell cycle and of the cellular response to oxidative stress and to DNA double strand breaks, the most toxic lesions of [clinicaladvisor.com]

Knowing the pathophysiology and the various interacting mechanism that lead to an invariable end-point of such impairment following these common neurological maladies can provide us with a window of much more refined management strategies. [ijsronline.net]

Pathophysiology The origin of congenital ocular motor apraxia is unclear. [neuroophthalmology.ca]

The pathophysiology of cerebellar ataxias is as diverse as the various neurological and systemic diseases affecting the cerebellum. [practicalneurology.com]

A-T is a multisystem disorder requiring multiple therapeutic interventions to slow or halt the neurodegeneration, to prevent or treat the tumours and to correct the associated immunodeficiency. [patient.info]

Prevention of secondary complications: high-protein diet to prevent edema by restoring serum albumin concentration; low-cholesterol diet. Surveillance: routine follow-up with a neurologist. [lacaf.org]

Health care services aimed at preventing health problems or maintaining health are provided. 9. Patient-focused care is provided by working with health care professionals, including those from other disciplines. Medical Knowledge 10. [pediatriceducation.org]

The APTX gene encodes for the single strand break DNA repair protein. [4], [5] AOA1 is caused by a mutation on this gene. [6] The lack of functional APTX prevents the repair of breaks in DNA and has been shown to affect mitochondrial DNA to a great extent [annalsofian.org]

This shortage prevents the efficient repair of DNA damage, which leads to the accumulation of broken DNA strands. [ghr.nlm.nih.gov]