Novel ATL1 mutation in a Chinese family with hereditary spastic paraplegia: A case report and review of literature

Table 1 Clinical characteristics of the patient and affected family members

Characteristics	I:1	II:2	III:1
Gender	Male	Female	Male
Age at onset (yr)	3	8	4
Past history	Lumbar disc herniation	None	None
Clinical presentations	Walking disturbance, mental retardation	Walking disturbance	Walking disturbance, mental retardation, right hearing loss
Physical examination
Muscle strength	Normal	Normal	Lower limbs: grade 5-
Muscle tension	Lower limbs: increase	Lower limbs: increase	Lower limbs: increase
Sensory	Normal	Normal	Normal
Tendon reflex	Bilateral knee reflex1	Bilateral knee reflex1	Bilateral knee reflex2
Babinski signs	Positive	Positive	Positive
Gait	Scissors gait	Scissors gait	Scissors gait
Auxiliary examination
MRI	Normal	Normal	Mild atrophy of the spinal cord
EMG/NCS	NA	Normal	Right tibial nerve’s F wave: Wide
BAEP	NA	NA	Right side hearing was impaired

¹Active;

²Hyperreflexia. MRI: Magnetic resonance imaging; EMG: Electromyography; NCS: Nerve conduction study; BAEP: Brainstem auditory evoked potential; NA: Not available.