Hereditary angiopathy with nephropathy aneurysms and cramps (HANAC)
Evidence-based neurology checklist on hereditary angiopathy with nephropathy aneurysms and cramps (hanac): Genetics This is caused by COL4A1 genetic mutations The transmission is autosomal dominant It is a systemic basalopathy Pathology Features of cramps Other neurological features Renal features…
Genetics
- This is caused by COL4A1 genetic mutations
- The transmission is autosomal dominant
- It is a systemic basalopathy
Pathology
Features of cramps
Other neurological features
Renal features
Ophthalmic features
Other features
Differential diagnosis
Magnetic resonance imaging (MRI) brain
Other investigations
References
- Haga S, Takeguchi R, Tanaka R, et al. Clinical characteristics of muscle cramps in hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome associated with a novel COL4A1 pathogenic variant: a family case study. Brain Dev 2023; 45:390-394.
- Shan LD, Peng J, Xiao H, et al. Clinical features and COL4A1 genotype of a toddler with hereditary angiopathy with nephropathy, aneurysms and muscle cramps syndrome. Zhongguo Dang Dai Er Ke Za Zhi 2019; 21:754-760.
- Bougea A, Kapaki E, Constantinides V, Yapijakis C, Paraskevas GP. An unusual phenocopy of the HANAC syndrome without genetic involvement of COL4A1/COL4A2. Acta Neurol Belg 2018; 118:135-136.
- Alamowitch S, Plaisier E, Favrole P, et al. Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome. Neurology 2009; 73:1873-1882.
- Plaisier E, Gribouval O, Alamowitch S, et al. COL4A1 mutations and hereditary angiopathy, ephropathy, aneurysms, and muscle cramps. N Engl J Med 2007; 357:2687-2695.
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