Table1. Summary of the clinical manifestations of the 13 patients with CSPSD
Author S. Ferdinandusse et al.* S. Ferdinandusse et al.* S. Ferdinandusse et al.* S. Ferdinandusse et al.* S. Ferdinandusse et al.* S. Ferdinandusse et al.* S. Ferdinandusse et al.* S. Ferdinandusse et al.* S. Ferdinandusse et al.* S. Ferdinandusse et al.* S. Ferdinandusse et al.* S. Ferdinandusse et al.*
P 1 P 2 P3 P4 P5 P6 P 7 P 8 P 9 P 10 P 11 P12 P13
Protein variation
C.1438C>T (p.Arg480Cys)
C.1438C>T(p.Arg480Cys)
C.1438C>T(p.Arg480Cys)
C.1438C>T(p.Arg480Cys)
C.1438C>T(p.Arg480Cys)
C.1438C>T(p.Arg480Cys)
C.1438C>T(p.Arg480Cys)
C.1438C>T(p.Arg480Cys)
c.1439G>A (p.Arg480His)
c.1439G>A (p.Arg480His)
c.1439G>A (p.Arg480His)
c.1439G>A (p.Arg480His)
c.1439G>T (p.Arg480Leu)
Gender F F F M F M M F M F M M F
Ethnicity Middle eastern French ND ND ND ND Caucasian ND Belgian ND ND ND ND
Age at the study (years) 5 9 4.5 2.3 5 5 3.5 10 19 6 6.5 4 6.5
Age of onset (months) 4 3 ND; Crawl at 14 3-4 3 2 10 3 3 10 6 8 4
Developmental Delay
+ G. motor at 15mo
+ G. motor, speech
+ GDD
+GDD dysarthria + G. motor, speech dysarthria
+G. motor, speech
+G. motor, speech
+, G. motor dysarthria
+ GDD
+G. motor, speech
+GDD
+ G. motor, speech
+G. motor, speech
Best Development
Walker, N speech and fine motor
Unable to walk. Fluent speech
Walker, 2-3 words
Walker, a lot of single words
Walk with assistance 2 word-sentences Pedal an adaptive bike N speech Post. walker, WC for long distance 75 words
crutches. 3to4 grade levels < chrono. age.
Brace, Completed college
Walker, fluent speech
Walker, simple sentences
Walker, fluent speech
Brace, crutches, fluent speech
Intellectual Disability - - + - - Below average IQ - + Learning dif. Memory impairment - + - -
Seizures / Epilepsy + (4mo) + - - + + + + + - + - +
Seizure Semiology
GTC
GTC
NA
-
FM, 2ry GTC
TC, FM, AS Still has FS
Complex FS
FM
GTC, AS
NA
GTC
NA
GTC
Epilepsy treatment LEV; DC at 1Y VPA NA NA LEV, OXCZ; DC at 2Y LEV,PHB,TOP; DC at 20mo ND PHB: DC later ND NA OXCZ NA PHB: DC at 14mo
Brain MRI N N ND Abnormal temp. lobe, ventricular prominence N N N N N N N Benign enlargement of subarachnoid spaces N
Spasticity (LL) + + + + + + + + + + + + +
Clonus + ND - + + ND ND ND ND ND + + +
Hypotonia - +Axial +Axial +Central +Axial +Axial - +Axial - +Axial - +Axial -
Hip dysplasia + at 3Y ND ND ND ND + subluxation, med. femoral H. flatness at 3.5Y, dystonia ND ND ND ND ND - ND
EEG N N NA NA ND Abnormal N ND Abnormal NA ND ND ND
Cataract + 2Y + 18mo + 7Y9mo + 7mo + congenital +11mo + 2Y9mo +congenital + congenital +10mo +6mo +8mo +2.5Y
GI/Feeding Problems
-
+Constipation
+Constipation
-
ND
+ Constipation
-
+ Dysphagia constipation
ND
ND
ND
ND
+ Feeding dif., constipation
Faltering growth +, Relative macrocephaly - ND ±( one occasion <3rd %ile) ND ND ND ND ND ND - Obese; Macrocephaly ND; Macrocephaly ND
Other
G. motor regression scissoring
Scoliosis
Joint hypermobility pronated feet
Recurrent OM
G. motor regression
Hip, knee, equinus contractures Subluxing patellae
-
ADHD, anxiety disorder
Hyperlordosis, ptosis
Dysmorphic facial features
Extra lateral incisor,
Ligamentous laxity, flat feet, scissoring. equinus contractures.
-