Ataxia - oculomotor apraxia type 1

General Information (adopted from Orphanet):

Synonyms, Signs: ATAXIA-OCULOMOTOR APRAXIA 1
ATAXIA-OCULOMOTOR APRAXIA SYNDROME
ATAXIA-TELANGIECTASIA-LIKE SYNDROME
EOCA-HA ATAXIA, ADULT-ONSET, WITH OCULOMOTOR APRAXIA, INCLUDED
CEREBELLAR ATAXIA, EARLY-ONSET, WITH HYPOALBUMINEMIA
EAOH
AOA
AOA1
Number of Symptoms 41
OrphanetNr: 1168
OMIM Id: 208920
ICD-10: G11.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal recessive cerebellar ataxia due to a DNA repair defect
 -Rare eye disease
 -Rare genetic disease
 -Rare neurologic disease
Coenzyme Q10 deficiency
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare neurologic disease
Genetic peripheral neuropathy
 -Rare genetic disease
 -Rare neurologic disease
Oculomotor apraxia or related oculomotor disease
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0011229) Broad eyebrow Very frequent [Orphanet] 9 / 7739
2
(HPO:0000571) Hypometric saccades 10 / 7739
3
(HPO:0000590) Progressive external ophthalmoplegia 23 / 7739
4
(HPO:0000640) Gaze-evoked nystagmus 14506070 IBIS 27 / 7739
5
(HPO:0000657) Oculomotor apraxia 14506070 IBIS 54 / 7739
6
(HPO:0001265) Hyporeflexia 208 / 7739
7
(HPO:0001332) Dystonia 197 / 7739
8
(HPO:0001268) Mental deterioration Occasional [HPO:probinson] 88 / 7739
9
(HPO:0002936) Distal sensory impairment 96 / 7739
10
(HPO:0001251) Ataxia 14506070 IBIS 413 / 7739
11
(HPO:0002078) Truncal ataxia 41 / 7739
12
(HPO:0012638) Abnormality of nervous system physiology Very frequent [Orphanet] 12 / 7739
13
(HPO:0001337) Tremor 200 / 7739
14
(HPO:0002066) Gait ataxia Very frequent [Orphanet] 327 / 7739
15
(HPO:0001284) Areflexia 198 / 7739
16
(HPO:0003387) Decreased number of large peripheral myelinated nerve fibers 11 / 7739
17
(HPO:0100543) Cognitive impairment 14506070 IBIS 230 / 7739
18
(HPO:0001288) Gait disturbance Very frequent [Orphanet] 318 / 7739
19
(HPO:0001260) Dysarthria 329 / 7739
20
(HPO:0002070) Limb ataxia 41 / 7739
21
(HPO:0001266) Choreoathetosis 79% [HPO:probinson] 14506070 IBIS 57 / 7739
22
(HPO:0000764) Peripheral axonal degeneration 6 / 7739
23
(HPO:0002650) Scoliosis 14506070 IBIS 705 / 7739
24
(HPO:0001761) Pes cavus 14506070 IBIS 225 / 7739
25
(HPO:0003073) Hypoalbuminemia 14506070 IBIS 40 / 7739
26
(HPO:0003124) Hypercholesterolemia 14506070 IBIS 53 / 7739
27
(HPO:0001324) Muscle weakness 859 / 7739
28
(HPO:0003693) Distal amyotrophy 118 / 7739
29
(HPO:0003621) Juvenile onset 105 / 7739
30
(OMIM) Muscle coenzyme Q deficiency 1 / 7739
31
(OMIM) Distal muscular atrophy due to peripheral neuropathy 1 / 7739
32
(OMIM) Cerebellar ataxia, severe 1 / 7739
33
(OMIM) Choreoathetosis (in 79%), more frequent at disease onset 1 / 7739
34
(HPO:0003581) Adult onset 117 / 7739
35
(OMIM) Nerve biopsy shows axonal degeneration and axonal sprouting 1 / 7739
36
(OMIM) Dementia in a subset of patients 1 / 7739
37
(OMIM) Axonal sensory and motor peripheral neuropathy, severe 1 / 7739
38
(OMIM) Mosy patients become wheelchair-bound after 10 years 1 / 7739
39
(HPO:0001272) Cerebellar atrophy 197 / 7739
40
(OMIM) Mental deterioration in a subset of patients 1 / 7739
41
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Ataxia-oculomotor apraxia syndrome is an early-onset autosomal recessive cerebellar ataxia with peripheral axonal neuropathy, oculomotor apraxia (defined as the limitation of ocular movements on command), and hypoalbuminemia (Moreira et al., 2001).
Clinical Description OMIM Aicardi et al. (1988) described an autosomal recessive syndrome that closely resembled ataxia-telangiectasia (AT; 208900) but differed in important respects. They reported 14 patients in 10 families with a neurologic syndrome of oculomotor apraxia, ataxia, and choreoathetosis who ...
Genotype-Phenotype Correlations OMIM Quinzii et al. (2005) found that 3 sibs originally reported by Musumeci et al. (2001) as having familial cerebellar ataxia with muscle coenzyme Q10 (CoQ10) deficiency (see, e.g., COQ10D1, 607426) actually had AOA1 due to a homozygous mutation ...
Molecular genetics OMIM Date et al. (2001) characterized 7 families from various regions of Japan with clinical manifestations like those of the ataxia-oculomotor apraxia syndrome and again showed mapping to 9p13 as in Europeans and people of European descent. They narrowed ...
Population genetics OMIM By 2001, the ongoing survey initiated in 1993 of hereditary ataxias and spastic paraplegias in Portugal, a country of 9.8 million persons, had identified 107 patients with autosomal recessive ataxia (Barbot et al., 2001). Friedreich ataxia (FRDA; 229300) ...
Diagnosis GeneReviews Ataxia with oculomotor apraxia type 1 (AOA1) is suspected in individuals with the following combination:...
Clinical Description GeneReviews Ataxia is the main cause of disability in ataxia with oculomotor apraxia type 1 in the first stages of the disease. Later, peripheral axonal motor neuropathy dominates the clinical picture. ...
Genotype-Phenotype Correlations GeneReviews Missense mutations of APTX may be associated with a later onset (age ~9 years). All other individuals with AOA1 with homozygous truncating mutations (nonsense or frameshift) had onset ranging between ages two and 12 years (mean: 4.6 years) [Moreira et al 2001b, Shimazaki et al 2002, Le Ber et al 2003, Sekijima et al 2003, Amouri et al 2004, Habeck et al 2004, Quinzii et al 2005]. ...
Differential Diagnosis GeneReviews The diagnosis of AOA1 is ruled out whenever the clinical picture includes non-progressive ataxia, microcephaly, or seizures. The differential diagnosis varies by age group. ...
Management GeneReviews To establish the extent of disease in an individual diagnosed with ataxia with oculomotor apraxia type 1 (AOA1), the following evaluations are recommended:...
Molecular genetics GeneReviews Information in the Molecular Genetics and OMIM tables may differ from that elsewhere in the GeneReview: tables may contain more recent information. —ED....