SCIENTIFIC BACKGROUND

AARS, ABHD12, AIFM1, ARHGEF10, ATL1, ATL3, ATP1A1, ATP7A, BAG3, BICD2, BSCL2, CCT5, COX6A1, CTDP1, DCTN1, DGAT2, DHTKD1, DNAJB2, DNM2, DNMT1, DYNC1H1, EGR2, ELP1, FBLN5, FGD4, FIG4, GAN, GARS, GDAP1, GJB1, GNB4, HARS, HINT1, HK1, HOXD10, HSPB1, HSPB3, HSPB8, IGHMBP2, INF2, KARS, KIF1A, KIF1B, KIF5A, LITAF, LMNA, LRSAM1, MARS, MCM3AP, MED25, MFN2, MME, MORC2, MPV17, MPZ, MTMR2, MYH14, NDRG1, NEFH, NEFL, NGF, NTRK1, OPA1, PDK3, PLEKHG5, PMP22, POLG, PRDM12, PRPS1, PRX, RAB7A, REEP1, RETREG1, SACS, SBF1, SBF2, SCN10A, SCN11A, SCN9A, SEPT9, SH3TC2, SIGMAR1, SLC12A6, SLC25A46, SLC5A7, SOX10, SPG11, SPTLC1, SPTLC2, SURF1, SYT2, TDP1, TFG, TRIM2, TRPV4, TTR, VCP, WNK1, YARS

Hereditary peripheral neuropathies are a group of the most common hereditary neurological diseases, which are clinically and genetically heterogeneous. Over 90 genes and alleles are involved, and age of onset is usually in the first or second decade of life, but manifestations later in life have also been observed. The classification is based on the clinical phenotype, mode of inheritance, age of manifestation, electrophysiological studies and the underlying pathogenic variant.

 

The main subtypes concern hereditary motor and sensory neuropathies (HMSN) or Charcot-Marie-Tooth disease (CMT, the most common form with an estimated prevalence of 1:1,200 to 1:2,500 in the general population), hereditary sensitive and autonomic neuropathy (HSAN or HSN), hereditary motor neuropathy (HMN or dHMN), and hereditary neuropathies with a liability to pressure palsies (HNPP). In addition, atypical phenotypes are reported whose symptoms overlap with spastic paraplegia, hereditary sensory neuropathy or amyotrophic lateral sclerosis.

 

References

Nam et Choi. 2019, Precis Future Med 3:43 / Azevedo et al. 2018, Arq Neuropsiquiatr 76:273 / Hartley et al. 2017, Clin Genet 93:301 / Stojkovic 2016, Rev Neurol (Paris) 172:775 / Arbeitsgemeinschaft der Wissenschaftlichen Medizinischen Fachgesellschaften (AWMF). S1- Leitlinie: Differentialdiagnose der hereditären und erworbenen Neuropathien im Kindes- und Jugendalter. 01.04.2015 / Gess et al. 2013 Nervenarzt 84:157

GENES

AARS, ABHD12, AIFM1, ARHGEF10, ATL1, ATL3, ATP1A1, ATP7A, BAG3, BICD2, BSCL2, CCT5, COX6A1, CTDP1, DCTN1, DGAT2, DHTKD1, DNAJB2, DNM2, DNMT1, DYNC1H1, EGR2, ELP1, FBLN5, FGD4, FIG4, GAN, GARS, GDAP1, GJB1, GNB4, HARS, HINT1, HK1, HOXD10, HSPB1, HSPB3, HSPB8, IGHMBP2, INF2, KARS, KIF1A, KIF1B, KIF5A, LITAF, LMNA, LRSAM1, MARS, MCM3AP, MED25, MFN2, MME, MORC2, MPV17, MPZ, MTMR2, MYH14, NDRG1, NEFH, NEFL, NGF, NTRK1, OPA1, PDK3, PLEKHG5, PMP22, POLG, PRDM12, PRPS1, PRX, RAB7A, REEP1, RETREG1, SACS, SBF1, SBF2, SCN10A, SCN11A, SCN9A, SEPT9, SH3TC2, SIGMAR1, SLC12A6, SLC25A46, SLC5A7, SOX10, SPG11, SPTLC1, SPTLC2, SURF1, SYT2, TDP1, TFG, TRIM2, TRPV4, TTR, VCP, WNK1, YARS

ASSOCIATED TESTS

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