Table 2.

Clinical features of 8 patients with SSADH deficiency^a

Abbreviations: ADD = attention deficit; AGG = aggression; ANX = anxiety; ATX = ataxia; den = dentate nucleus; GP = globus pallidus; GTCS = generalized tonic-clonic seizure; HA = hyperactivity; HALL = hallucinations; Hypot = hypotonia; ID = intellectual disability; OCD = obsessive-compulsive disorder; SL = sleep disturbance; SSADH = succinic semialdehyde dehydrogenase; sub = subthalamic nucleus; WM = white matter.

^aAll patients had hyporeflexia and motor dyspraxia on examination.

^bNumbers in parentheses indicate patient numbers as tested in our flumazenil-PET study (see reference 14).

^cPatients 3 and 4 are sisters.