Krabbe disease: clinical features

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Krabbe disease: clinical features. This is caused by mutations in the glucocerebrosidase (GALC). Fully referenced neurology checklist.

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

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Developmental features

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Pyramidal features

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Movement disorders

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Other features

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Synonym

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References

  1. Gelinas J, Liao P, Lehman A, Stockler S, Sirrs S. Krabbe disease: a potentially treatable white matter disorder. Neurology 2012; 79:e170-e172.
  2. 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.
  3. Kapoor R, MCDonald WI, Crockard A, Moseley IF. Clinical onset and MRI features of Krabbe's disease in adolescence. JNNP 1992; 55:331-332.
  4. 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.
  5. 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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