Fear Processing and Social Networking in the Absence of a Functional Amygdala Supplemental Information Volunteers

Demographical and Neuropsychological Characteristics With less than 300 reported cases since its initial description, lipoproteinosis of UrbachWiethe (LP; syn. Urbach-Wiethe disease or Hyalinosis cutis et mucosae; OMIM 247100), LP is a rare autosomal recessive genodermatosis typified by cutaneous, mucosal and visceral deposits of periodic acid-Schiff (PAS)–positive hyaline (glycoprotein) material that pathognomonically presents itself in early infancy through hoarse cries due to infiltration of the vocal cords (1). Intracranial mineralizations occur in up to 50 – 75% of LP patients and may be slowly progressive in nature, such that the clinical phenotype is often complicated by epilepsy (2). Whereas patient 1 has never suffered epileptic seizures, patient 2 suffered a first grand-mal seizure at age 12, which led to diagnosis of LP and subsequent diagnosis of her twin sister. Due to pregnancy, patient 2 has stopped her anticonvulsive therapy with a 900-mg daily dose of valproate in 2006. Both patients report preepileptic auras that occur up to twice a month. Grown up in a shared family environment in a rural residential area in southern Germany, the twins have completed 13 years of education and been in fulltime employment since. They are 36 years of age, married, have children, display an average IQ (HAWIE-R: patient 1, 101; patient 2, 96), and perform relatively unimpaired across a wide range of neuropsychological and psychopathological measures (3), which is consistent with their previously reported disease profiles (4-6) (for a characterization of South-African LP patients see also (7, 8)). Controls had a mean age of 33.7 years (SEM = 0.9 years), reported an average of 14.1 years of education (SEM = 0.7 year), had no current or history of neurological or psychiatric illness, and performed within the normal range on measures of visual attention (including processing speed, rule compliance, quality of performance, and task switching) (Table S1).