Case Report

An Unusual Developmental Profile of Salla Disease in a Patient with the SallaFIN Mutation

Table 1

Neuropsychological evaluation of the proband at 30 years of age.

Full name of the testAbbreviationReferenceThe domain of the test/chosen partsResultsa

Wechsler Intelligence Scale for Children-IIIWISC-IIIWechsler (1991) [9] *Verbal skills1
*Perceptual skills1
Children’s Neuropsychological Test Battery NEPSYKorkman et al. (1997) [10] *Comprehension of instructions0
*Oromotor sequences2
*Repetition of nonsense words 2
Physical and Neurological Examination of Soft SignsPANESSDenckla (1985) [11]Corpus callosum dysfunction2
Static and Dynamic Cerebellar TestsCerebellar testsFawcett et al. (2001) [12]Dysfunction of cerebellum1
Timed Up-and-Go-testTUG-testWilliams et al. (2005) [13]Basic and functional mobility1

a0 = among average, 1 = mild deficits, 2 = severe deficits.