Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome

A rare hereditary ataxia characterized by a progressive cerebellar ataxia associated with disruption of visual fixation by saccadic intrusions (overshooting horizontal saccades with macrosaccadic oscillations and increased velocity of larger saccades). It presents with progressive gait, trunk and limb ataxia with pyramidal tract signs (increased tendon reflexes and Babinski sign), myoclonic jerks, fasciculations, cerebellar dysarthria, sensorimotor axonal neuropathy with impaired joint position, vibration, temperature, pain sensations, pes cavus, and saccadic intrusions with characteristic overshooting horizontal saccades, macrosaccadic oscillations, and increased velocity of larger saccades, without other eye movement disturbances.



Input patient's signs and symptoms


Narrow down the case reports



Total: 0 (papers)
  


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
        

Phenotype(s) retrieved from Orphanet

    Total: 20

HPO ID Term Frequency
HP:0002066 Gait ataxia Very frequent (99-80%)
HP:0002070 Limb ataxia Very frequent (99-80%)
HP:0002073 Progressive cerebellar ataxia Very frequent (99-80%)
HP:0002078 Truncal ataxia Very frequent (99-80%)
HP:0002366 Abnormal lower motor neuron morphology Very frequent (99-80%)
HP:0002493 Upper motor neuron dysfunction Very frequent (99-80%)
HP:0003474 Sensory impairment Very frequent (99-80%)
HP:0007256 Abnormal pyramidal sign Very frequent (99-80%)
HP:0025404 Abnormal visual fixation Very frequent (99-80%)
HP:0000496 Abnormality of eye movement Frequent (79-30%)
HP:0000570 Abnormal saccadic eye movements Frequent (79-30%)
HP:0001260 Dysarthria Frequent (79-30%)
HP:0001761 Pes cavus Frequent (79-30%)
HP:0002317 Unsteady gait Frequent (79-30%)
HP:0002380 Fasciculations Frequent (79-30%)
HP:0007141 Sensorimotor neuropathy Frequent (79-30%)
HP:0007338 Hypermetric saccades Frequent (79-30%)
HP:0010522 Dyslexia Frequent (79-30%)
HP:0010831 Impaired proprioception Frequent (79-30%)
HP:0001336 Myoclonus Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID