Clinical Severity Score of Pronicka et al for a Patient with a Genetic Defect in CLPB (Caseinolytic Peptidase B)

Pronicka et al developed a score for evaluating a patient with mutations in CLPB. The authors are from multiple institutions from around the world.

CLPB encodes the caseinolytic peptidase B homologue ClpB.

Parameters:

(1) onset of cataracts

(2) onset of neutropenia

(3) onset of 3-methylglutaconic aciduria (3-MGA-uria)

(4) onset of altered muscle tone (hypertonia or hypotonia)

(5) onset of movement disorder (tremor, dystonia, ataxia, etc)

(6) onset of seizures

(7) onset of brain atrophy

(8) fetal problem OR minimum Apgar score for 1 or 5 minutes

(9) age at death

(10) developmental delay or intellectual disability

Parameter	Finding	Points
onset of cataracts	neonatal onset	2
	onset after neonatal period	1
	absent	0
onset of neutropenia	neonatal onset	2
	onset after neonatal period	1
	absent	0
onset of 3-MGA-uria	neonatal onset	2
	onset after neonatal period	1
	absent	0
onset of altered muscle tone	neonatal onset	2
	onset after neonatal period	1
	absent	0
onset of movement disorder	neonatal onset	2
	onset after neonatal period	1
	absent	0
onset of seizures	neonatal onset	2
	onset after neonatal period	1
	absent	0
onset of brain atrophy	neonatal onset	2
	onset after neonatal period	1
	absent	0
fetal problem or Apgar score	fetal problem	1
	any Apgar score <= 5	1
	neither	0
age at death	neonatal	10
	death at older age	5
	alive	0
developmental delay or intellectual disability	none	0
	mild	1
	moderate	2
	severe	3

total score =

= SUM(points for all 10 parameters)

Interpretation:

• minimum score: 0

• maximum score: 28

• The higher the score the more severe the defect.

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