. Author manuscript; available in PMC: 2018 Jul 1.

Published in final edited form as: J Neurol Neurosurg Psychiatry. 2017 May 13;88(7):575–585. doi: 10.1136/jnnp-2016-315077

Table 4.

Selection of additional clinical features associated with ≥2 NEFL mutations

Delayed walking/motor milestones	P8L, E90K, N98S, E210*, E396K
Disease onset≤3 years	P8L, P22R, E90K, N98S/T, E210*, E396K
Hearing loss	E90K, N98S/T, L268P, C322_N326del, E396K
Waddling gait	N98S, E140*, E396K
Facial weakness	N98S, Y265C, Q332P
Raised CK levels	N98S, Q332P, E396K
Tremor	P8L, P8R, N98S, L311P, C322_N326del
Ataxia	P8R, P22S, N98S, L311P, C322_N326del, Y389C, E396K
Diagnosed as SCA/FRDA	P8R, N98S, L311P, C322_N326del, E396K
Nystagmus/abnormal pursuits	P8R, N98S
Cerebellar atrophy	N98S, E396K
Dysarthria	P8R, N98S, E396K
Pyramidal tract signs	Y265C, Y389C, E396K, F439I, P440L
Scoliosis/hyperlordosis	P8R, N98S

Abnormal pursuits, broken-up pursuit eye movements; ataxia, limb or gait ataxia, sensory ataxia, episodic ataxia or ataxia not otherwise specified; CK, creatine kinase; FRDA, Friedreich’s ataxia; SCA, spinocerebellar ataxia; tremor, head or limb tremor, or tremor not otherwise specified.