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+The proband is a 19-year-old woman, first child of healthy unrelated parents.
+Her family history was unremarkable.
+She was born at term after a normal pregnancy.
+The perinatal period was uneventful and her early development was referred to as normal, but after 1 year of age, psychomotor delay became evident.
+She started walking autonomously at 22 months, with poor balance and frequent falls.
+At 3 years of age, she developed a demyelinating sensorimotor neuropathy and a brain MRI disclosed supratentorial leukodystrophy.
+During her childhood, the clinical signs remained stable.
+At 10 years, her walking difficulties worsened, and limb weakness and tremor ensued.
+The neurological evaluation showed dysarthria, dysmetria, ataxic gait and hyporeflexia in the four limbs with muscle wasting.
+She was able to walk alone only for a few steps with an ataxic gait.
+Mild cognitive impairment was documented (IQ 75, WISC-R scale).
+Histological analysis of a muscle biopsy showed hypo/atrophy of fibres.
+The clinical evolution was slowly progressive.
+At her last follow-up examination, at 19 years of age, she was able to walk alone only with ankle-foot orthotic aids and had developed a marked dorsal-lumbar scoliosis.
+Other clinical signs were stable.
+Neurophysiological studies confirmed worsening of her mixed axonal demyelinating peripheral neuropathy.
+Brain and spinal cord MRI showed mild extension of signal abnormalities and extensive cavitations in the cerebral white matter; the cerebellum and brainstem were spared but the spinal cord was thin with no obvious focal lesions (figure 1A).
+Plasma lactate was 2.9 mM (n.v. <2.1).