Adult-onset Alexander disease, associated with a mutation in an alternative GFAP transcript, may be phenotypically modulated by a non-neutral HDAC6 variant

Table 1 Clinical and instrumental assessments

	Pt1	Pt2
Current age	68	60
Age at onset	55	46
Disease duration at the time of examinations, years	13	14
Instrumental assessment *
Cognitive: MMSE score	16/30	30/30
EMG	0	Mild motor axonal neuropathy (1)
MEPs Bulbar/UL/LL	N.A./0/0	1/1/3
SEPs UL/LL	1/1	0/1
BAEPs	NA	NA
VEPs	0	0
Autonomic testing	0	0
Clinical scoring **
Dysarthria/dysphagia	2	2
Gait abnormalities	1	3
Spasticity	0	3
Axial Ataxia	1	0
Limb dysmetria	2	0
Limb weakness	0	2
Muscle wasting	0	1
Sphincter function	2	0

* For neurophysiological assessments, values are graded as 0 (normal), 1 (abnormality not exceeding 25% of upper/lower normal ranges), 2 (between 25 and 50%), and 3 (beyond 50%).
** For clinical dysfunctions, abnormalities are graded as 0 (normal), 1 (only objective signs), 2 (mild dysfunction, not interfering with activities), 3 (severe dysfunction interfering with walking, feeding, or social interactions).
MMSE: mini–mental state examination; EMG: Electromyography; MEPs: Motor evoked potentials; SEPs: Sensory evoked potentials; UL/LL: upper/lower limbs; BAEPs: Brainstem Auditory Evoked Potentials; VEPs: visual evoked potentials.

ISSN: 1750-1172