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Table 1 Clinical findings and further investigations in PRPS1 Gln277Pro mutation carriers

From: X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutation

Subject II.2 II.1 I.2
Gender m f f
Phenotypic cluster CMTX5/Arts DFN2 None
Current age 36 42 66
Age of onset first symptom Congenital, hearing loss Congenital, hearing loss None
Neurological
Mental retardation (+) progressive aggressive, childish behavior, starting at age 18 - -
Ataxia (age of onset) +, 30 years - -
Severity of ataxia (SARA score) 14 out of 40 1 out of 40 0 out of 40
Delayed motor development - - -
Loss of deep tendon reflexes + - -
Hearing loss (age of onset) +, congenital +, congenital  
Optic atrophy (age of onset) 12 -- -
Uric acid overproduction
Gout - - -
Kidney stones - - -
Renal failure - - -
Serum uric acid (ref 3.4-7.0 mg/dl) 4.3 mg/dl 4.4 mg/dl 4.2 mg/dl
Hematopoetic
Recurrent infections (+), only from age 6 to 8 years - -
Anemia - - -
Other
Short stature - - -
Self-injury - - -
Early death - - -
Lab, electrophysiology and MRI investigations
Nerve conduction studies    
-Sensory nerve conduction Sur: no SNAP; Rad: no SNAP Sur: normal, Rad: normal n.d.
Sural or radial nerve
-Motor nerve conduction Tib: borderline MNCV (40 m/s; ref > 40 m/s); Uln: reduced CMAP (2.1 mV; ref: > 4 mV); reduced MNCV (36 m/s; ref: > 50 m/s) Tib: normal; Uln: normal  
Tibial or ulnar nerve
MRI Mild cerebellar and parietal cortical atrophy Mild cerebellar and parietal cortical atrophy n.d.
Serum creatinkinase (ref <180 U/l) 1168 U/l 141U/l 196 U/l
PRS-I enzyme activity (ref 0.41-1.46 nmol/(min.mg protein) <0.005 nmol/(min.mg protein) 0.1 nmol/(min.mg protein) 1.04 nmol/(min.mg protein)
  1. This table was designed to show not only those clinical symptoms that are present, but also those that are absent in this index family, yet common in other PRPS1 patients. The features were selected and extended from de Brouwer et al., 2010 [6]. Legend: m, male; f, female; n.d., not done; ref, reference value; SARA, scale for the Assessment and Rating of Ataxia, reaching from 0 to 40, with higher scores indicating more severe ataxia; scores < 3 points are considered unspecific. Sur = sural; Rad = radial; Tib = tibial, Uln = ulnar; SNAP = sensory nerve action potential; SNCV = sensory nerve conduction velocity; CMAP = compound muscle action potential; MNCV = motor nerve conduction velocity; MRI, magnetic resonance imaging.