Gender
|
M
|
F
|
F
|
F
|
M
|
F
|
F
|
F
|
M
|
Gene mutated
|
TPP1
|
EXOSC3
|
PLA2G6
|
MOCS2
|
PLA2G6
|
SURF1
|
MFSD8
|
KIF1A
|
PLA2G6
|
Genbank reference
|
NM_000391.3
|
NM_016042.3
|
NM_003560.2
|
NM_176806.3
|
NM_003560.2
|
NM_003172.3
|
NM_152778.2
|
NM_001244008.1
|
NM_003560.2
|
Mutation cDNA level
|
c.790C > T
|
c.395A > C
|
c.2070_2072del
|
c.3G > A
|
c.2070_2072del
|
c.237G > A
|
c.1213C > T
|
c.173C > T
|
c.1613G > A
|
Mutation protein level
|
p.Q264*
|
p.D132A
|
p.V691del
|
p.M1?
|
p.V691del
|
p.W79*
|
p.Q405*
|
p.S58L
|
p.R538H
|
Final diagnosis
|
CLN2 Late infantile
|
Mild PCH type 1B
|
PLAN/INAD
|
Mild MoCo deficiency
|
PLAN/INAD
|
LEIGH SYNDROME
|
CLN7
|
AD ID
|
PLAN/INAD
|
Age of onset (years.months)
|
3.1
|
1
|
0.9
|
Neonatal
|
1.6/1.0
|
1
|
0.6
|
2.0
|
1.5
|
Last follow-up (years.months)
|
4.6
|
1.9
|
3.0
|
6.0
|
4.0/2.0
|
4.7
|
3.6
|
5.0
|
3.6
|
Initial symptom
|
Convulsions
|
Developmental delay
|
Convulsions
|
Developmental delay
|
Convulsions
|
Gait disturbance
|
Developmental delay
|
Gait disturbance
|
Developmental regression
|
Development
| | | | | | | | | |
Developmental delay
|
+
|
+
|
+
|
+
|
+
|
+
|
+
|
+
|
+
|
Motor developmental delay
|
+
|
+
|
+
|
+
|
+/++
|
+
|
+
|
+
|
+
|
Social development delay
|
+
|
+
|
+
|
+
|
+/++
|
+
|
++ (autistic features)
|
+
|
+
|
Progressive condition
|
+
|
-
|
Mildy progressive
|
-
|
+
|
+
|
+
|
-
|
+
|
Seizures
| | | | | | | | | |
Description
|
Focal epileptic activity
|
GTC
|
Focal Right-temporal discharges, GTC
|
Left fronto-temporal epileptogenic dysfunction
|
Focal, GTC
|
GTC
|
Right frontal epileptogenic focus, Akinetic fits
|
Right-temporal activity, intractable epilepsy
|
GTC
|
Neurological Findings
| | | | | | | | | |
Hypotonia
|
+
|
+
|
+
|
- (Hypertonia)
|
+
|
+
|
+
|
+
|
+
|
Nystagmus
|
-
|
+
|
+
|
-
|
+
|
+
|
-
|
-
|
+
|
Wide-based, staggering gait
|
+
|
+
|
Enable to walk
|
Wide based gait
|
+
|
Tetubation, ataxia
|
+
|
Wide-based, staggering gait
|
Tetubation,ataxia
|
Peripheral neuropathy
|
-
|
+
|
+
|
-
|
+
|
+
|
-
|
+
|
+
|
MRI
| | | | | | | | | |
Cerebellum:Hypoplasia/Progressive or fixed Atrophy
|
Atrophy/hypoplasia
|
Atrophy
|
Atrophy,hypoplasia, dilated cisterna magna
|
Atrophy
|
Atrophy
|
Atrophy + abnormal signal intensity
|
Atrophy
|
Atrophy
|
Atrophy
|
Brainstem
|
-
|
-
|
-
|
-
|
-
|
Abnormal signal intensity as well as in BG
|
-
|
-
|
-
|
Cerebral cortex
|
Mild cortical atrophy
|
-
|
-
|
Right frontal arachnoid cyst, mild frontal lobe atrophy
|
Mild cortical atrophy/-
|
-
|
Atrophy
|
-
|
-
|
Ventricular system
|
-
|
-
|
Dilated
|
-
|
Moderate dilatation
|
-
|
Mild dilatation
|
-
|
-
|
Facial dysmorphism
|
-
|
Squint
|
-
|
Mild dysmorphism
|
-
|
-
|
-
|
-
|
-
|
Ophtalmologic finding
|
Fundus exam: Macular lesion
|
-
|
-
|
-
|
-
|
-
|
-
|
-
|
-
|
Relevant metabolic result
| | | |
High Plasma S-Sulphocysteine level and high plamsa Xhantine level (see text)
| |
Plasma lactate in the normal range
|
Blood ammonia: 62.2 μmol/L (normal 15–45); blood lactate: 20.6 mmol/L (normal = 0.5-2.2)
| | |