{"Name":"Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2","DiseaseID__c":"GARD:0012860","id":12860,"encodedName":"spinocerebellar-ataxia-autosomal-recessive-with-axonal-neuropathy-2","IsDeleted":false,"Disease_Name_Full__c":"Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2","Xref_IDs__c":"725408001; C165500; C1853761; C537308; DOID:0050755; MEDGEN:340052; MONDO:0018996; OMIM:606002; ORPHA:64753","USA_Estimate__c":"5,000","No_of_Specialist_Tagsa__c":7,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0018996","Disease_Description__c":"A rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with frequent oculomotor apraxia, severe neuropathy and an elevated serum alpha-fetoprotein (AFP) level.","GARD_Name__c":"Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2","GARD_Synonym__c":"aoa2; aoa2 - ataxia oculomotor apraxia type 2; ataxia with oculomotor apraxia; ataxia with oculomotor apraxia 2; ataxia with oculomotor apraxia type 2; ataxia-ocular apraxia 2; ataxia-ocular apraxia-2; ataxia-oculomotor apraxia 2; ataxia-oculomotor apraxia type 2; autosomal recessive cerebellar ataxia with oculomotor apraxia type 2; scan 2; scan2; scar1; scar1 - spinocerebellar ataxia autosomal recessive 1; spinocerebellar ataxia with axonal neuropathy type 2; spinocerebellar ataxia, autosomal recessive 1; spinocerebellar ataxia, autosomal recessive type 1","Curated_Disease_Description_Source__c":"GARD:0012860","Curated_Disease_Description__c":"Spinocerebellar ataxia with axonal neuropathy type 2 (AOA2) is a rare condition that affects muscle control and coordination. Other signs and symptoms may include sensorimotor neuropathy, mild cognitive impairment and less commonly, movement disorders. Approximately half of affected people also experience, oculomotor apraxia which makes it difficult to move the eyes from side-to side in the desired direction. AOA2 is caused by changes in the SETX gene and is inherited in an autosomal recessive manner.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"from Childhood to Adulthood","SourceID__c":"ORPHA:64753","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018996","ORPHANET_ID__c":"ORPHA:64753","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Ataxia espinocerebelosa con neuropatía axonal tipo 2","Spanish_Description_Source__c":"ORPHA:64753","Spanish_Description__c":"Es una ataxia cerebelosa autosómica recesiva (ACAR) poco frecuente caracterizada por ataxia cerebelosa progresiva asociada a apraxia oculomotora frecuente, neuropatía grave y niveles elevados de alfa-fetoproteína sérica (AFP).","Spanish_Disease_Name__c":"ataxia espinocerebelosa con neuropatía axonal tipo 2","Spanish_GARD_Synonym__c":"aoa2; ataxia-apraxia oculomotora tipo 2; scan 2; scar1","Category_Linearization__c":"ORPHA:98006","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Spinocerebellar ataxia with axonal neuropathy type 2 (AOA2) is a rare condition that affects muscle control and coordination. Other signs and symptoms may include sensorimotor neuropathy, mild cognitive impairment and less commonly, movement disorders. Approximately half of affected people also experience, oculomotor apraxia which makes it difficult to move the eyes from side-to side in the desired direction. AOA2 is caused by changes in the SETX gene and is inherited in an autosomal recessive manner.","Curated_Disease_Description_Source__c":"GARD:0012860","GARD_Synonym__c":"aoa2; aoa2 - ataxia oculomotor apraxia type 2; ataxia with oculomotor apraxia; ataxia with oculomotor apraxia 2; ataxia with oculomotor apraxia type 2; ataxia-ocular apraxia 2; ataxia-ocular apraxia-2; ataxia-oculomotor apraxia 2; ataxia-oculomotor apraxia type 2; autosomal recessive cerebellar ataxia with oculomotor apraxia type 2; scan 2; scan2; scar1; scar1 - spinocerebellar ataxia autosomal recessive 1; spinocerebellar ataxia with axonal neuropathy type 2; spinocerebellar ataxia, autosomal recessive 1; spinocerebellar ataxia, autosomal recessive type 1","Name":"Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"AT Society","Website__c":"https://atsociety.org.uk/"},{"Account_Name__c":"Alianza Iberoamericana de Enfermedades Raras o Poco Frecuentes","Website__c":"https://aliber.org/web/"},{"Account_Name__c":"Federación Mexicana de Enfermedades Raras (FEMEXER)","Website__c":"http://www.femexer.org/"},{"Account_Name__c":"Federación Española de Enfermedades Raras","Website__c":"https://enfermedades-raras.org/"},{"Account_Name__c":"Federación Colombiana de Enfermedades Raras","Website__c":"http://www.fecoer.org"},{"Account_Name__c":"Federación Argentina de Enfermedades Poco Frecuentes","Website__c":"https://fadepof.org.ar/"},{"Account_Name__c":"Asociación Todos Unidos Enfermedades Raras Uruguay","Website__c":"https://atueru.org.uy/"},{"Account_Name__c":"Federación de Ataxias de España","Website__c":"https://fedaes.org/"},{"Account_Name__c":"Centro de Trastornos del Movimiento","Website__c":"https://cetram.org/"},{"Account_Name__c":"National Ataxia Foundation","Website__c":"https://ataxia.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Ophthalmology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Psychiatry","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Peripheral Neuropathy","Tag_Category__c":"Account","curated_tag_name":"Peripheral neuropathy"},{"Tag_Name__c":"Ataxia","Tag_Category__c":"Account","curated_tag_name":"Ataxia"},{"Tag_Name__c":"Neuro-Ophthalmology","Tag_Category__c":"Specialist","curated_tag_name":"Neuro-ophthalmic diseases"},{"Tag_Name__c":"Neuromuscular medicine","Tag_Category__c":"Specialist","curated_tag_name":"Neuromuscular medicine"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:64753"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:64753"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:64753"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0012860","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1138","Xref__c":"NBK1138"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1154","Source__c":"Gene Review","Xref__c":"NBK1154"},{"URL__c":"https://www.omim.org/entry/606002","Source__c":"C1853761; MONDO:0018996","Xref__c":"OMIM:606002"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537308","Source__c":"MONDO:0018996","Xref__c":"C537308"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050755","Source__c":"MONDO:0018996","Xref__c":"DOID:0050755"},{"URL__c":"https://www.orpha.net/en/disease/detail/64753","Source__c":"C1853761; MONDO:0018996; ORPHA:64753","Xref__c":"ORPHA:64753"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=340052","Source__c":"C1853761","Xref__c":"MEDGEN:340052"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=725408001","Source__c":"C1853761; MONDO:0018996","Xref__c":"725408001"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1853761","Source__c":"C1853761","Xref__c":"C1853761"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C165500","Source__c":"C1853761; MONDO:0018996","Xref__c":"C165500"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018996","Source__c":"GARD:0012860","Xref__c":"MONDO:0018996"},{"URL__c":"https://medlineplus.gov/genetics/condition/ataxia-with-oculomotor-apraxia","Source__c":"GARD:0012860","Xref__c":"https://medlineplus.gov/genetics/condition/ataxia-with-oculomotor-apraxia"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SETX","GHR_URL__c":"https://medlineplus.gov/genetics/gene/setx","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:64753","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of tracking eye movements in which smooth pursuit is interrupted by an abnormally high number of saccadic movements.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001152","HPO_Synonym__c":"Saccadic pursuit movements; Saccadic slow pursuit; Saccadic smooth pursuit","HPO_Name__c":"Saccadic smooth pursuit interruptions","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:64753","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal function of a sphincter of the urinary bladder.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002839","HPO_Synonym__c":"Sphincter disturbance; Sphincter disturbances","HPO_Name__c":"Urinary bladder sphincter dysfunction","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:64753","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Absence of neurologic reflexes such as the knee-jerk reaction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001284","HPO_Synonym__c":"Absent deep tendon reflexes; Absent tendon reflexes; Deep tendon reflexes absent; Loss of deep tendon reflexes; Lost deep tendon reflexes","HPO_Name__c":"Areflexia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:64753","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000486","HPO_Synonym__c":"Cross-eyed; Squint; Squint eyes","HPO_Name__c":"Strabismus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:64753","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002141","HPO_Synonym__c":"Abnormality of balance; Abnormality of equilibrium; Imbalanced walk","HPO_Name__c":"Gait imbalance","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:64753","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Functional neurological abnormalities related to dysfunction of the pyramidal tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007256","HPO_Synonym__c":"Corticospinal signs; Pyramidal signs; Pyramidal tract signs","HPO_Name__c":"Abnormal pyramidal sign","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:64753","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Nystagmus made apparent by looking to the right or to the left.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000640","HPO_Name__c":"Gaze-evoked nystagmus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:64753","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The concentration of albumin in the blood circulation is below the lower limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003073","HPO_Synonym__c":"Decreased albumin concentration; Decreased albumin level; Decreased albumin level in blood; Decreased circulating abumin concentration; Hypoalbuminaemia; Hypoalbuminemia; Low blood albumin; Reduced albumin concentration; Reduced albumin level; Reduced albumin level in blood","HPO_Name__c":"Hypoalbuminemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:64753","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the primary sensation that is mediated by peripheral nerves (pain, temperature, touch, vibration, joint position). The word hypoesthesia (or hypesthesia) refers to a reduction in cutaneous sensation to a specific type of testing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003474","HPO_Synonym__c":"Sensory impairment","HPO_Name__c":"Somatic sensory dysfunction","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:64753","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of tremors that is triggered by holding a limb in a fixed position.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002174","HPO_Name__c":"Postural tremor","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:64753","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003236","HPO_Synonym__c":"Elevated blood creatine phosphokinase; Elevated circulating creatine phosphokinase; Elevated creatine kinase; Elevated serum CPK; Elevated serum creatine kinase; Elevated serum creatine phosphokinase; High serum creatine kinase; Increased CPK; Increased creatine kinase; Increased creatine phosphokinase; Increased serum CK; Increased serum creatine kinase; Increased serum creatine phosphokinase","HPO_Name__c":"Elevated circulating creatine kinase concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:64753","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An increased concentration of cholesterol in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003124","HPO_Synonym__c":"Elevated serum cholesterol; Elevated total cholesterol; Increased total cholesterol","HPO_Name__c":"Hypercholesterolemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:64753","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An unintentional, oscillating to-and-fro muscle movement affecting head movement.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002346","HPO_Synonym__c":"Head tremor","HPO_Name__c":"Head tremor","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:64753","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Concentration of alpha-fetoprotein in the blood circulation above the upper limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006254","HPO_Synonym__c":"Increased levels of alpha fetoprotein; Increased serum alpha-fetoprotein; Serum alpha-fetoprotein increased","HPO_Name__c":"Elevated circulating alpha-fetoprotein concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:64753","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Wasting (atrophy) of the vermis of cerebellum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006855","HPO_Synonym__c":"Atrophy of cerebellar vermis; Atrophy of the cerebellar vermis; Vermian atrophy","HPO_Name__c":"Cerebellar vermis atrophy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:64753","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancelation of the vestibulo-ocular reflex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000657","HPO_Synonym__c":"Ocular motor apraxia","HPO_Name__c":"Oculomotor apraxia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:64753","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007141","HPO_Synonym__c":"Mixed polyneuropathy; Nerve damage causing decreased feeling and movement; Sensorimotor peripheral neuropathy","HPO_Name__c":"Sensorimotor neuropathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:64753","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001332","HPO_Synonym__c":"Dystonic movements","HPO_Name__c":"Dystonia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:64753","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Ataxia refers to impaired coordination of voluntary muscle movement. Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001251","HPO_Synonym__c":"Cerebellar ataxia","HPO_Name__c":"Ataxia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:64753","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Difficulty in swallowing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002015","HPO_Synonym__c":"Difficulty swallowing; Poor swallowing; Swallowing difficulties; Swallowing difficulty","HPO_Name__c":"Dysphagia","Feature_System__c":"Nervous System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:64753","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003487","HPO_Synonym__c":"Extensor plantar reflexes; Extensor plantar response; Extensor plantar responses; Positive Babinski sign","HPO_Name__c":"Babinski sign","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:64753","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Involuntary movements characterized by both athetosis (inability to sustain muscles in a fixed position) and chorea (widespread jerky arrhythmic movements).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001266","HPO_Synonym__c":"Choreoathetoid movements","HPO_Name__c":"Choreoathetosis","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Ophthalmology","Psychiatry","Neuro-Ophthalmology","Neuromuscular medicine","Pediatrics"],"Account":["Peripheral Neuropathy","Ataxia"]},"synonyms":["aoa2"," aoa2 - ataxia oculomotor apraxia type 2"," ataxia with oculomotor apraxia"," ataxia with oculomotor apraxia 2"," ataxia with oculomotor apraxia type 2"," ataxia-ocular apraxia 2"," ataxia-ocular apraxia-2"," ataxia-oculomotor apraxia 2"," ataxia-oculomotor apraxia type 2"," autosomal recessive cerebellar ataxia with oculomotor apraxia type 2"," scan 2"," scan2"," scar1"," scar1 - spinocerebellar ataxia autosomal recessive 1"," spinocerebellar ataxia with axonal neuropathy type 2"," spinocerebellar ataxia, autosomal recessive 1"," spinocerebellar ataxia, autosomal recessive type 1"],"spanishId":13627,"spanishName":"ataxia-espinocerebelosa-con-neuropatia-axonal-tipo-2"}