Main clinical features
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complex spastic paraparesis, normal early development and onset at 4–6 years of age with gait disturbance due to lower-limb spasticity
between 7–12 years of age, spasticity extended to the upper limbs; dystonia was evident from a few years of onset, involving trunk, limbs, and face and interfering with articulation and swallowing; deteriorated cognitive abilities with age
cerebellar dysfunction with dysmetria and dysdiadochokinesis were additionally noted and at midadolescence, the patients lost ambulation |