From: Neuropsychological and neuroanatomical phenotype in 17 patients with cystinosis
Study name | Number of patients | Mean Age [age range] | Sexe ratio (M/F) | Neurologic disorders associated with NC | Brain MRI | Neuropsycho logical assessment | Age at ESRD (years) | Renal transplants | Age at cysteamine initiation |
---|---|---|---|---|---|---|---|---|---|
Cochat, 1985 | 10 | 14.2 | NA | repeated seizures, tremor, mental retardation, pseudobulbar or pyramidal syndrome | - (TDM) | - | NA | NA | - |
SD 4 | |||||||||
Jonas, 1987 | 1 | 25 | 0 | impairment in visual perception, moderate bilateral sensorineural hearing loss, mild peripheral neuropathy, | - (TDM) | + | 7 | 1 | NA |
[NA] | |||||||||
Trauner, 1988 | 22 | 11.7 | 1 | 16/20 impaired gross and fine motor skills; 11/20 generalized hypotonia; 5/20 intention tremor; 3/20 speech delay; 2/20 microcephaly; 1/20 progressive encephalopathy | - | + | NA | 7 | 10 had not received cysteamine |
[2,9-28,5] | |||||||||
Nichols, 1990 | 11 | 9.8 | 2.7 | NA | + | + | NA | 3 | NA |
[5,3-19,3] | |||||||||
Broyer, 1996 | 7 | 23 | 6 | neurological complications in 7/26 patients older than 19 years old with 2 forms: - encephalopathie (cerebellar and pyramidal signs, mental deterioration and pseudo-bulbar palsy): 4/7 - stroke-like episode with coma and hemiplegia or milder symptoms | + | - | 10.4 | 7 | 23,7b |
[19-26] | |||||||||
Ballantyne, 1997 | 19 | 8.82 | 0.9 | NA | - | + | NA | NA | NA |
[5,08-25,33] | |||||||||
Ballantyne, 2000 | 33 | NA | 1 | NA | - | + | NA | NA | NA |
[5-14] | |||||||||
Dogulu, 2004 | 8 | 22.25 | 0.6 | Documented IntraCranial HyperTension in all patients | + | - | 13.2 | 5 | 1.9 |
[5-47] | |||||||||
Delgado, 2005 | 64 | 8.67 | 0.94 | NA | - | + | - | NA | NA |
[4-16] | |||||||||
Trauner, 2007 | 25 | NA | 1.08 | NA | - | + | - | 0 | 20,7 months |
[3,08-8] | |||||||||
Spilkin, 2007 | 20 | NA | Â | NA | - | + | NA | 0 | NA |
[4-7] | |||||||||
Muller, 2008 | 1 | 38 | 0 | progressive distal myopathy; cerebellar syndrome regressive under cysteamin | + | - | 13 | 1 | 29 years |
NA | |||||||||
Ulmer, 2009 | 9 | 9.7 | 1.25 | None | + | + | 10.6 | 4 | NA |
[5.3-19.9] | |||||||||
Berger, 2009 | 1 | 29 | 1 | cervical myelopathy and focal seizures | + | - | 8 | 1 | 20 years |
NA | |||||||||
Trauner, 2010 | 52 | NA | 1.5 | NA | + | + | NA | NA | NA |
[2-17] 2 groups (n=26): preacademic [2-5]; school-age [6-17] | |||||||||
Bava, 2010 | 24 | 5.5 | Â | none | + | + | NA | NA | NA |
[3-7] | |||||||||
Besouw, 2010 | 14 | 10.5 | 1.33 | NA | - | + | NA | 4 | 1.8 |
[6-17] | |||||||||
Rogers, 2010 | 6 | NA | 1 | 3/6 had intracranial hypertension (age range [19-22]) | + | - | NA | 3 | NA |
[7-22] | |||||||||
Marquardt, 2013 | 1 | 21 | 0 | Posterior Reversible Encephalopathy Syndrome (PRES): generalized seizures, headache, hypertension, vigilance deterioration | + | - | peritoneal dialysis | NA | NA high doses (3g/day) |
NA | |||||||||
Cazals, 2013 | 1 | 24 | 1 | encephalopathy: stroke, then gradually walkind difficulties, cerebellar and frontal pyramidal syndrome | + | - | 8 | 1 | NA poor adherence to treatment |
NA | |||||||||
Neutel, 2013 | 1 | 32 | 0 | recurrent ischemic stroke | + | - | 12 | 1 | NA |
NA | |||||||||
Ballantyne, 2013 | 28 | 12.16 | Â | NA | + | + | NA | 8 | NA |
[8-17,5] | ( n=16)a | ||||||||
Viltz, 2013 | 46 | 7.3 | Â | NA | - | + | NA | NA | "early / late" treatment |
[3-18] | |||||||||
Aly, 2014 | 13 | 5.9 | 1.2 | NA | + | + | NA (3 were ESRD) | 0 | NA |
[1,5-12] | |||||||||
Rao, 2015 | 53 | NA | Â | 10/53 had Chiari I malformation, 2 of the 10 were symptomatic | + | - | NA | NA | NA |
[3-18] | |||||||||
Martin-Begué, 2016 | 8 | 9.6 | 1.67 | Intracranial Hypertension in 4/8 (at the age of 6-10 years); 1/4 symptomatic (had a Arnold-Chiari anomaly and enlarged ventricules); 2/4 VPD | + | - | NA | 2 | NA |
[5-14] |