Table 2. [Leukoencephalopathy with Brain Stem and...]. - GeneReviews®

Feature	% of Persons w/Feature	Comment
Normal early development	80%	Infantile form was recently identified [Stellingwerff et al 2021]; relative incidence is not clear yet but probably low.
Loss of motor skills	100%	Core feature of LBSL
Cerebellar ataxia	Very common
Spasticity	Very common
Axonal neuropathy	Uncommon	↓ or absent tendon reflexes, distal weakness, sensory loss
Learning disability	20%	Most often learning disability; severe intellectual impairment is rare.
Cognitive decline	20%
Epilepsy	Uncommon	Usually easily controlled w/ASM

From: Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation

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Adam MP, Feldman J, Mirzaa GM, et al., editors.

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