All individuals with variants in gene COASY

3 entries on 1 page. Showing entries 1 - 3.
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00017613 - PubMed: Dusi 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents/sibs F yes Italy - - - - - NBIA1 birth weight: 3,850 g; No history of perinatal complications;Normal early developmental milestones; 24 months: parents reported gait difficulties and persistent toe walking; 6y: poor academic ability;15y: Normal general physical examination; Mild oro-mandibular dystonia with dysarthria; spastic dystonic paraparesis; still able to walk unaided; IQ ¼ 49; 20y:unable to ambulate independently; 25y: severe spastic bradykinetic-rigid syndrome associated with mild dystonia with distal areflexia in the lower limbs 1 1 Marianne Vos (LOVD-team)
00017614 - PubMed: Dusi 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Italy Italian - - - - NBIA1 born at term of uneventful pregnancy;1y Normal psychomotor development; walking delayed as a result of instability and toe walking; 3y: spastic tetraparesis; moderate mental and language impairment; Disease was progressive, worsening of motor signs in lower limbs; progressive involvement of upper limbs and oro-mandibular region;15y:No independent ambulation; 17y: mild oro-mandibular dystonia with dysarthria; spastic-dystonic tetraparesis with prevalent involvement of lower limbs; parkinsonian features (rigidity and abnormal postural reflexes); Distal amyotrophia; areflexia with pes cavus; Severe cognitive impairment (total IQ < 40); Obsessive-compulsive behavior; complex motor tics; 19y-unchanged neurological picture; Motor axonal neuropathy more prominent in the lower limbs 2 1 Marianne Vos (LOVD-team)
00054881 Pat1 PubMed: Corbett 2011, Journal: Corbett 2011 2-generation family, 1 affected, unaffected heterozygous carrier parents/sib F yes Australia - 32y - - - EPM6 7y tremor; 7-8y absences; 8y obvious myoclonus; 13y drop attacks; 13y convulsive seizures; 2y areflexia; 14y wheelchair; 22y bedfast; normal cognition until 25y, mmemory difficulties later; scoliosis, pes cavus; EEG generalized spike-wave, posterior emphasis photosensitive; CK 570–800 (normal <170) 1 1 Johan den Dunnen
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