Krabbe disease: clinical features
Evidence-based neurology checklist on krabbe disease: clinical features: Genetics This is caused by mutations in the glucocerebrosidase (GALC) The gene is on chromosome 14 Affected subjects are unable to degrade galactolipids in myelin There are globoid cells deposit in the perivascular regions…
Genetics
- This is caused by mutations in the glucocerebrosidase (GALC)
- The gene is on chromosome 14
- Affected subjects are unable to degrade galactolipids in myelin
- There are globoid cells deposit in the perivascular regions
Types
Developmental features
Pyramidal features
Movement disorders
Other features
Synonym
References
- Gelinas J, Liao P, Lehman A, Stockler S, Sirrs S. Krabbe disease: a potentially treatable white matter disorder. Neurology 2012; 79:e170-e172.
- Given CA 2nd, Santos CC, Durden DD. Intracranial and spinal MR imaging findings associated with Krabbe's disease: case report. Am J Neuroradiol 2001; 22:1782-1785.
- Kapoor R, MCDonald WI, Crockard A, Moseley IF. Clinical onset and MRI features of Krabbe's disease in adolescence. JNNP 1992; 55:331-332.
- Bajaj NPS, Waldman A, Orrell R. Wood NW, Bhatia KP. Familial adult onset of Krabbe's disease resembling hereditary spastic paraplegia with normal imaging. JNNP 2002; 72:635-638.
- Adachi H, Ishihara K, Tachibana H, et al. Adult-onset Krabbe disease presenting with an isolated form of peripheral neuropathy. Muscle Nerve 2016; 54:152-157.
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