Familial amyloid polyneuropathy (FAP): gelsolin type
Evidence-based neurology checklist on familial amyloid polyneuropathy (fap): gelsolin type: 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…
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
Systemic features
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.
