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Table 2 Study characteristics. Descriptive features of the studies included in the review of literature (NA: Non Available). The total number of studies that met the inclusion criteria and were included in the analysis were k = 26, comprising 478 patients, with a mean age of 16.1 years, ranging from [1.5 to 47] years. Eighteen studies described neuroimaging data (Table 3) and fifteen studies described neuropsychological data in NC patients (Table 4).

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

 

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

 

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

 

NA

+

+

NA

8

NA

[8-17,5]

( n=16)a

Viltz, 2013

46

7.3

 

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

 

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]

  1. aonly in a sub-group (n=16), data from a previous study
  2. bcysteamine seemed to be effective on patients with encephalopathy (2/4: complete disappearance, 1/4 partially improved)