NEFL |
Both |
Charcot-Marie-Tooth disease type 1 F |
(Jordanova et al., 2003) |
|
|
Charcot-Marie-Tooth disease type 2E |
(Mersiyanova et al., 2000) |
|
|
Charcot-Marie-Tooth disease, Dominant intermediate G |
(Berciano et al., 2016) |
|
|
Congenital myopathy |
(Agrawal et al., 2014) |
|
|
Hereditary spastic paraplegia |
(Mul et al., 2020) |
NEFH |
Both |
Charcot-Marie-Tooth disease, Axonal, Type 2CC |
(Rebelo et al., 2016) |
|
|
Amyotrophic lateral sclerosis |
(Al-Chalabi et al., 1999) |
PRPH |
Both |
Amyotrophic lateral sclerosis |
(Leung et al., 2004) |
|
|
Peripheral neuropathy |
(Bjornsdottir et al., 2019) |
INA |
Pathology |
Neuronal intermediate filament inclusion disease |
(Cairns et al., 2004) |
NEFM |
Both |
Parkinson disease |
(Lavedan et al., 2002) |
MAPT |
Both |
Frontotemporal dementia with or without |
(Hutton et al., 1998) |
|
|
parkinsonism Pick disease |
(Murrell et al., 1999) |
|
|
Progressive supranuclear palsy 1 |
(Poorkaj et al., 2002) |
|
|
Atypical progressive supranuclear palsy 1 |
(Pastor et al., 2001) |
|
|
Parkinson disease |
(Martin et al., 2001) |