What is CANAVAN DISEASE (ASPA)?

rare (1:200000, 1:6000 - 1:14000 among the Ashkenazi) autosomal recessive mutation in the gene encoding aspartoacylase (ASPA) Juvenile onset: cerebellar signs, optic atrophy, visual loss. Janson CG published 2 cases who presented at age 50 and 19 months with developmental delay but without macrocephaly, hypotonia, spasticity, or seizures.

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Canavan-Krankheit; Aspartoacylase-Mangel

CANAVAN DISEASE (ASPA)

Disease	CANAVAN DISEASE (ASPA)
Synonym	AMINOACYLASE 2 DEFICIENCY; CANAVAN-VAN BOGAERT-BERTRAND DISEASE
OMIM	271900 OMIM = Online Mendelian Inheritance of Men
Orphanet	141
Protein (UniProt)	aspartoacylase
ExPASy	3.5.1.15
Gene locus	17p13.2
ICD	E75.2
Summary	rare (1:200000, 1:6000 - 1:14000 among the Ashkenazi) autosomal recessive mutation in the gene encoding aspartoacylase (ASPA) Juvenile onset: cerebellar signs, optic atrophy, visual loss. Janson CG published 2 cases who presented at age 50 and 19 months with developmental delay but without macrocephaly, hypotonia, spasticity, or seizures.
Laboratory findings	N-Acetylaspartic acid inc (plasma) N-Acetylaspartic acid inc (urine) Aspartoacylase dec (fibroblasts) Cholestanol () Choline dec (urine) Citric acid inc (cerebrospinal fluid) N-Acetylaspartic acid inc (cerebrospinal fluid) Succinic acid inc (cerebrospinal fluid)
Symptoms	basal ganglia, changes, lesions, calcifications (MRI, CT) loss of early milestones macrocephaly (large calvaria, >2 SD for age) poor or absent head control blindness, visual loss, visual impairment dysarthria epilepsy hearing defect, deafness hypertonia, spasticity hypotonia intellectual disability/intellectual developmental disorder motor retardation opisthotonus optic atrophy sweating cerebral atrophy constipation CT, brain, abnormalities [-] developmental delay DNA dysmorphism early death encephalopathy extrapyramidal signs feeding difficulties, poor feeding fever irritability joint stiffness lethargy, drowsiness, apathy leukodystrophy mental retardation microcephaly (<2 SD for age) MRI, brain, abnormalities [-] MRS, brain, abnormalities myelination, incomplete, hypomyelination myoclonus neurological deterioration nystagmus onset, childhood onset, infancy onset, neonatal psychomotor retardation seizures speech development, delayed, abnormal strokelike episodes swallowing difficulties tremor or twitching vomiting white matter changes, abnormalities