Table 3 Detailed description of psychiatric history and manifestations of CTX patients drawn from the medical literature

From: Psychiatric manifestations in cerebrotendinous xanthomatosis

Psychiatric symptoms and signs (age)

P1: (BEHAVIORAL/PERSONALITY disorder) Behavioral/personality disorder, (<10)

P2: (MOOD/AFFECTIVE disorder) Depressive episode, suicidal ideation and threats, aggressivity, assault threats, disinhibition, poor impulse control, fecal incontinence (49)

P3: NS (32)

P4: (BEHAVIORAL/PERSONALITY disorder) Apathy, spasmodic laughter/cry (43)

P5: (BEHAVIORAL/PERSONALITY disorder) Behavioral alteration, logorrhea, psychomotor excitation, distractibility, fleeting ideas, emotional lability, no spasmodic laughter/cry (39)

P6: (BEHAVIORAL/PERSONALITY disorder) Behavioral/personality disorder (childhood), psychiatric institution (23)

P7: (MOOD/AFFECTIVE disorder) Mood instability, affective disorder, predominantly depressive periods, phases of agitation/excitation even aggressivity (49)

P8: (BEHAVIORAL/PERSONALITY disorder) Behavioral/personality disorder, irritability, agitation (6 psychiatric hospitalizations before 32) personality disturbance, hypersexuality?(32) paranoid id., suicidal (41)

P9: (PSYCHOSIS) Psychosis atypical, paranoid delusion (37)

P10: (CATATONIA) Catatonia reactive to family stress?, akinetic, mute, fixed postures, urinary–fecal incontinence (27)

P11: (BEHAVIORAL/PERSONALITY disorder) Aggressivity, agitated, required many hospitalizations (22)

P12: NS (25)

P13: (BEHAVIORAL/PERSONALITY disorder) Behavioral/personality disorder, aggressivity, destructive behavior (24)

P14: NS (between 17–33)

P15: (BEHAVIORAL/PERSONALITY disorder) Behavioral/personality disorder (early childhood)

P16: (BEHAVIORAL/PERSONALITY disorder) Behavioral/personality disorder, lack of affection and neglect towards family, restlessness, disinhibition, apathy, abulia, PREDEMENTIA (38–40)

P17: (BEHAVIORAL/PERSONALITY disorder) Behavioral/personality disorder, behavioral changes

P18: (PSYCHOSIS) Psychosis

P19: (MOOD/AFFECTIVE disorder) Depression

P20: (BEHAVIORAL/PERSONALITY disorder) Behavioral/personality disorder, Behavioral changes

P21: (PSYCHOSIS) Psychosis

P22: (BEHAVIORAL/PERSONALITY disorder) Behavioral/personality disorder, Behavioral changes

P23: (BEHAVIORAL/PERSONALITY disorder) Behavioral/personality disorder, Behavioral changes

P24: (BEHAVIORAL/PERSONALITY disorder) Behavioral/personality disorder, Behavioral changes

P25: (MOOD/AFFECTIVE disorder) Depression

P26: (PSYCHOSIS) Psychosis

P27: (PSYCHOSIS) Psychosis

P28: (MOOD/AFFECTIVE disorder) Depression, irritability, insomnia, crying spells, poor appetite, agitated; bullied constantly by her siblings with CTX since early teens (29)

P29: (BEHAVIORAL/PERSONALITY disorder) Behavioral/personality disorder, aggressivity towards sister (adolescence)

P30: (BEHAVIORAL/PERSONALITY disorder) Behavioral/personality disorder, Aggressivity towards sister (adolescence)

P31: (MOOD/AFFECTIVE disorder) Depression (>26, 26–37)

P32: (MOOD/AFFECTIVE disorder) Depression severe (49)

P33: (BEHAVIORAL/PERSONALITY disorder) Behavioral/personality disorder, poor judgment, self-neglect, altered sexual behavior, dysexec, irritability, anxiety (44) PERSONALITY disturbance profound, breakdown in social behavior (53)

P34: (BEHAVIORAL/PERSONALITY disorder) Behavioral/personality disorder, spasmodic laughter

P35: (BEHAVIORAL/PERSONALITY disorder) Behavioral/personality disorder, BEHAVIORAl disorder, aggressivity, irritability, awake at nights, anxiety, fight and hitting and hitting people (10)

P36: (BEHAVIORAL/PERSONALITY disorder) Behavioral/personality disorder, odd behavior could lose his job, but no aggressivity (>18)

P37: NS (40s)

P38: (BEHAVIORAL/PERSONALITY disorder) Behavioral/personality disturbance at military, introverted (adolescence), paranoid delusions, undifferentiated schizophrenia and schizoid personality disturbance (20–40)

P39: (BEHAVIORAL/PERSONALITY disorder) Behavioral/personality disorder, ADHD (late childhood, adolescence)

P40: (MOOD/AFFECTIVE disorder) Depression, benzodiazepine abuse, suicidal ideation

P41: (MOOD/AFFECTIVE disorder) Mood/affective, bipolar disorder, schizophrenia

P42: (BEHAVIORAL/PERSONALITY disorder) Behavioral/personality disorder, aggressivity, irritability

P43: (BEHAVIORAL/PERSONALITY disorder) Behavioral/personality disorder, aggressivity, irritability

P44: (MOOD/AFFECTIVE disorder) Anxiety

P45: (MOOD/AFFECTIVE disorder) Dysthymia

P46: NS

P47: NS

P48: NS

P49: NS

P50: NS

P51: NS

P52: NS

P53: NS

P54: NS

  1. Abbreviations: ADHD, attention-deficit hyperactivity disorder; CTX, cerebrotendinous xanthomatosis; NS: not specified.
  2. In parentheses, age at onset of psychiatric symptomatology/semeiology.