Familial amyloid polyneuropathy (FAP): gelsolin type
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Familial amyloid polyneuropathy (FAP): gelsolin type. This is caused by mutations in the G654A or G654T gelsolin gene.
Genetics and pathology
- This is caused by mutations in the G654A or G654T gelsolin gene
- There is gelsolin amyloid (AGel) deposition
- There is large nerve fiber demyelination
- There is denervation atrophy and fiber type grouping in skeletal muscles
Neuropathy types
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Systemic features
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References
- Kiuru-Enari S, Somer H, Seppäläinen AM, Notkola IL, Haltia M. Neuromuscular pathology in hereditary gelsolin amyloidosis. J Neuropathol Exp Neurol 2002; 61:565-571.
- Dansereau B, Wang LH, Ma M. Hereditary neuropathic itch caused by gelsolin mutation. J Neurol Sci 2024; 463:123139.
- Mendelson L, Prokaeva T, Lau KHV, et al. Hereditary gelsolin amyloidosis: a rare cause of cranial, peripheral and autonomic neuropathies linked to D187N and Y447H substitutions. Amyloid 2023; 30:357-363.
- Kiuru-Enari S, Keski-Oja J, Haltia M. Cutis laxa in hereditary gelsolin amyloidosis. Br J Dermatol 2005; 152:250-257.
