EOCA
MCID: CRB160
MIFTS: 25

Cerebellar Ataxia, Early-Onset, with Retained Tendon Reflexes (EOCA)

Categories: Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Cerebellar Ataxia, Early-Onset, with Retained Tendon Reflexes

MalaCards integrated aliases for Cerebellar Ataxia, Early-Onset, with Retained Tendon Reflexes:

Name: Cerebellar Ataxia, Early-Onset, with Retained Tendon Reflexes 56
Harding Ataxia 52 58 71
Eoca 56 52 58
Early-Onset Cerebellar Ataxia with Retained Tendon Reflexes 58
Cerebellar Ataxia Early Onset with Retained Tendon Reflex 52
Ataxia, Harding Type 52
Eocarr 58

Characteristics:

Orphanet epidemiological data:

58
early-onset cerebellar ataxia with retained tendon reflexes
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Italy),1-9/100000 (Europe); Age of onset: Adolescent,Adult,Childhood; Age of death: adult;

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

OMIM 56 212895
MESH via Orphanet 44 C535633
ICD10 via Orphanet 33 G11.1
UMLS via Orphanet 72 C0393520
Orphanet 58 ORPHA1177
MedGen 41 C0393520
UMLS 71 C0393520

Summaries for Cerebellar Ataxia, Early-Onset, with Retained Tendon Reflexes

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1177 Definition Early onset cerebellar ataxia with retained reflexes (EOCARR) or Harding ataxia is a cerebellar ataxia characterized by the progressive association of a cerebellar and pyramidal syndrome with progressive cerebellar ataxia, brisk tendon reflexes, and sometimes profound sensory loss. Epidemiology The prevalence of EOCARR ataxia has been estimated to be around 1/100,000, and the birth prevalence at 1/48,000 births in North-western Italy. Clinical description EOCARR is a progressive cerebellar ataxia, with disease onset occurring in childhood or in juveniles (ranging from 3 to 20 years with a mean age of 9 years). EOCARR is characterized by dysarthria , gait ataxia, nystagmus , brisk tendon reflexes in the upper and lower limbs, absent ankle reflexes, and discrete or absent deep sensory loss. The association of brisk jerks and absent ankle reflexes may occur. Oculomotor disturbances, dysphagia , tremor, scoliosis , pes cavus, extensor plantar response, and lower limb wasting and weakness may be observed while amyotrophy is rarely observed. Moreover, spasticity may become progressively severe. Etiology The exact etiology of EOCARR is still unknown. However, molecular genetic analysis in a Tunisian family confirmed the genetic heterogeneity of this syndrome and mapped the gene locus to chromosome 13q11-12. Diagnostic methods Diagnosis relies on physical examination as well as on imaging findings (magnetic resonance imaging (MRI) or computed tomography (CT)) revealing cerebellar atrophy. Peripheral nerve conduction and nerve biopsy findings may show moderate to severe axonal sensory-motor neuropathy with axonal regeneration. Differential diagnosis Differential diagnosis includes Friedreich ataxia (FRDA; in contrast to EOCARR shows cardiomyopathy , diabetes mellitus , scoliosis, skeletal deformities or optic atrophy), autosomal dominant cerebellar ataxia (ADCA), autosomal recessive spastic ataxia of Charlevoix-Saguenay, ataxia with vitamin E deficiency (see these terms), and inherited metabolic disorders that may express ataxia. Genetic counseling Transmission is autosomal recessive. The parents of an affected child should be informed of the 25% chance of transmitting the disease to future offspring. Management and treatment Treatment is symptomatic, aimed towards the control of spasticity, and should include physiotherapy and pharmacotherapy (that may include spasmolytic drugs such as baclofen). Prognosis The period of latency before becoming wheelchair-bound is significantly longer in EOCARR than in FRDA, resulting in a better prognosis in patients with EOCARR than in those with FRDA. Visit the Orphanet disease page for more resources.

MalaCards based summary : Cerebellar Ataxia, Early-Onset, with Retained Tendon Reflexes, also known as harding ataxia, is related to ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia and friedreich ataxia, and has symptoms including cerebellar ataxia Affiliated tissues include cortex, and related phenotypes are progressive cerebellar ataxia and abnormal pyramidal sign

More information from OMIM: 212895

Related Diseases for Cerebellar Ataxia, Early-Onset, with Retained Tendon Reflexes

Diseases related to Cerebellar Ataxia, Early-Onset, with Retained Tendon Reflexes via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 14)
# Related Disease Score Top Affiliating Genes
1 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 11.6
2 friedreich ataxia 10.5
3 3-methylglutaconic aciduria, type iii 10.5
4 ataxia and polyneuropathy, adult-onset 10.4
5 olivopontocerebellar atrophy 10.4
6 hereditary ataxia 10.3
7 scoliosis 10.3
8 autosomal dominant cerebellar ataxia 10.3
9 muscular atrophy 10.3
10 spasticity 10.3
11 sensory peripheral neuropathy 10.2
12 peripheral nervous system disease 10.2
13 neuropathy 10.2
14 cerebral atrophy 10.2

Graphical network of the top 20 diseases related to Cerebellar Ataxia, Early-Onset, with Retained Tendon Reflexes:



Diseases related to Cerebellar Ataxia, Early-Onset, with Retained Tendon Reflexes

Symptoms & Phenotypes for Cerebellar Ataxia, Early-Onset, with Retained Tendon Reflexes

Human phenotypes related to Cerebellar Ataxia, Early-Onset, with Retained Tendon Reflexes:

58 31 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 progressive cerebellar ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002073
2 abnormal pyramidal sign 58 31 frequent (33%) Frequent (79-30%) HP:0007256
3 dysphagia 58 31 frequent (33%) Frequent (79-30%) HP:0002015
4 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
5 dysarthria 58 31 frequent (33%) Frequent (79-30%) HP:0001260
6 sensory impairment 58 31 frequent (33%) Frequent (79-30%) HP:0003474
7 progressive gait ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0007240
8 jerky ocular pursuit movements 58 31 frequent (33%) Frequent (79-30%) HP:0008003
9 lower limb hypertonia 58 31 frequent (33%) Frequent (79-30%) HP:0006895
10 hyperactive patellar reflex 58 31 frequent (33%) Frequent (79-30%) HP:0007083
11 hyperreflexia in upper limbs 58 31 frequent (33%) Frequent (79-30%) HP:0007350
12 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
13 cognitive impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0100543
14 pes cavus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001761
15 lower limb spasticity 58 31 occasional (7.5%) Occasional (29-5%) HP:0002061
16 generalized amyotrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003700
17 lower limb muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0007340
18 abnormal ekg 58 31 occasional (7.5%) Occasional (29-5%) HP:0003115
19 impaired visuospatial constructive cognition 58 31 occasional (7.5%) Occasional (29-5%) HP:0010794
20 decreased/absent ankle reflexes 58 31 occasional (7.5%) Occasional (29-5%) HP:0200101
21 optic atrophy 58 Excluded (0%)
22 diabetes mellitus 58 Excluded (0%)
23 cardiomyopathy 58 Excluded (0%)
24 multiple skeletal anomalies 58 Excluded (0%)

Clinical features from OMIM:

212895

UMLS symptoms related to Cerebellar Ataxia, Early-Onset, with Retained Tendon Reflexes:


cerebellar ataxia

Drugs & Therapeutics for Cerebellar Ataxia, Early-Onset, with Retained Tendon Reflexes

Search Clinical Trials , NIH Clinical Center for Cerebellar Ataxia, Early-Onset, with Retained Tendon Reflexes

Genetic Tests for Cerebellar Ataxia, Early-Onset, with Retained Tendon Reflexes

Anatomical Context for Cerebellar Ataxia, Early-Onset, with Retained Tendon Reflexes

MalaCards organs/tissues related to Cerebellar Ataxia, Early-Onset, with Retained Tendon Reflexes:

40
Cortex

Publications for Cerebellar Ataxia, Early-Onset, with Retained Tendon Reflexes

Articles related to Cerebellar Ataxia, Early-Onset, with Retained Tendon Reflexes:

(show all 43)
# Title Authors PMID Year
1
Early-onset cerebellar ataxia (EOCA) with retained reflexes: reduced cerebellar benzodiazepine-receptor binding, progressive metabolic and cognitive impairment. 56 61
9686785 1998
2
Early onset cerebellar ataxia with retained tendon reflexes: prevalence and gene frequency in an Italian population. 61 56
8330454 1993
3
Early onset cerebellar ataxia with retained tendon reflexes. Clinical, electrophysiological and MRI observations in comparison with Friedreich's ataxia. 56 61
1884166 1991
4
Clinical and genetic heterogeneity in early onset cerebellar ataxia with retained tendon reflexes. 61 56
2213043 1990
5
Early-onset cerebellar ataxia with retained tendon reflexes. 56
2618587 1989
6
Early onset cerebellar ataxia with retained tendon reflexes: a clinical and genetic study of a disorder distinct from Friedreich's ataxia. 56
7276963 1981
7
Synergistic effect of Fusarium lateritium LP7 and Trichoderma viride LP5 promotes ethoxylated oleyl-cetyl alcohol biodegradation. 61
32148162 2020
8
Cardiovascular Effects of the Essential Oil of Croton argyrophylloides in Normotensive Rats: Role of the Autonomic Nervous System. 61
27956919 2016
9
pH-Manipulated Underwater-Oil Adhesion Wettability Behavior on the Micro/Nanoscale Semicircular Structure and Related Thermodynamic Analysis. 61
25919443 2015
10
Peripheral nerve involvement in hereditary cerebellar and multisystem degenerative disorders. 61
23931821 2013
11
Essential oil of Croton argyrophylloides: toxicological aspects and vasorelaxant activity in rats. 61
23157021 2012
12
Other autosomal recessive and childhood ataxias. 61
21827899 2012
13
Photofrin PDT for early stage oesophageal cancer: long term results in 40 patients and literature review. 61
19932447 2009
14
Different altered stage correlative expression of high abundance acute-phase proteins in sera of patients with epithelial ovarian carcinoma. 61
19709441 2009
15
Profiling of serum and tissue high abundance acute-phase proteins of patients with epithelial and germ line ovarian carcinoma. 61
18637207 2008
16
Neurophysiologic studies in early-onset cerebellar ataxia. 61
16885713 2006
17
Genetic analysis of early onset cerebellar ataxia with retained tendon reflexes in four Tunisian families. 61
11298681 2001
18
[Neuroimaging study with morphometric analysis of hereditary and idiopathic ataxia]. 61
11333779 2001
19
Homozygosity mapping of Portuguese and Japanese forms of ataxia-oculomotor apraxia to 9p13, and evidence for genetic heterogeneity. 61
11170899 2001
20
Relative sparing of the parietal cortex in cerebellar ataxia documented by positron emission tomography. 61
11154806 2000
21
Linkage to chromosome 13q11-12 of an autosomal recessive cerebellar ataxia in a Tunisian family. 61
10751248 2000
22
Early onset cerebellar ataxia with retained tendon reflexes (EOCA) and olivopontocerebellar atrophy (OPCA): a computed tomographic study. 61
10625898 1999
23
Early onset cerebellar ataxia with retained tendon reflexes: foot deformity in a first grade family member. 61
10622455 1999
24
Early onset cerebellar ataxia and preservation of tendon reflexes: clinical phenotypes associated with GAA trinucleotide repeat expanded and non-expanded genotypes. 61
10197066 1999
25
Cerebral blood flow in spinocerebellar degenerations: a single photon emission tomography study in 28 patients. 61
9758299 1998
26
The natural history of degenerative ataxia: a retrospective study in 466 patients. 61
9577387 1998
27
Early onset cerebellar ataxia with retained tendon reflexes comparison with Friedreich's ataxia and olivopontocerebellar atrophy : an evoked potential study. 61
29509152 1997
28
Early onset cerebellar ataxia with retained tendon reflexes (EOCA): an electromyographic study. 61
8877321 1996
29
Early onset cerebellar ataxia with retained tendon reflexes: a clinical, electrophysiological and computed tomographic study. 61
8773062 1995
30
Magnetic resonance imaging in "typical" and "late onset" Friedreich's disease and early onset cerebellar ataxia with retained tendon reflexes. 61
8537218 1995
31
Hereditary ataxias and paraplegias in Valle d'Aosta, Italy: a study of prevalence and disability. 61
7793232 1995
32
[Siblings of early onset cerebellar ataxia with hypoalbuminemia]. 61
7781224 1995
33
Evoked potentials in inherited ataxias: a multimodal electrophysiological study. 61
8206744 1994
34
Reduced life expectancy in 40 cases of early onset cerebellar ataxia with retained tendon reflexes: a population-based study. 61
8296536 1993
35
[A case of juvenile onset ataxia with dystonia, myoclonus, sensorineural hearing loss and mental retardation]. 61
8261707 1993
36
Is early onset cerebellar ataxia with retained tendon reflexes identifiable by electrophysiologic and histologic profile? A comparison with Friedreich's ataxia. 61
1469454 1992
37
[Clinical and electrophysiological findings in various hereditary sensory neuropathies]. 61
1293978 1992
38
Classifications of hereditary ataxias. A critical overview. 61
1293984 1992
39
Hereditary ataxias and paraplegias in Cantabria, Spain. An epidemiological and clinical study. 61
2043954 1991
40
[Differential diagnosis of Friedreich ataxia]. 61
2922087 1989
41
Central motor conduction in degenerative ataxic disorders: a magnetic stimulation study. 61
2841427 1988
42
Polygraphic sleep patterns in heredoataxia: a study of nine cases. 61
3764034 1986
43
Prevalence and pattern of spinocerebellar degenerations in northeastern Libya. 61
4075075 1985

Variations for Cerebellar Ataxia, Early-Onset, with Retained Tendon Reflexes

Expression for Cerebellar Ataxia, Early-Onset, with Retained Tendon Reflexes

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Pathways for Cerebellar Ataxia, Early-Onset, with Retained Tendon Reflexes

GO Terms for Cerebellar Ataxia, Early-Onset, with Retained Tendon Reflexes

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