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Table 1 Clinical features and laboratory findings in the affected family members

From: Novel neuro-audiological findings and further evidence for TWNK involvement in Perrault syndrome

Clinical features Proband Sister
Sex F F
Age at disease onset, years 3 11
Age at examination, years 27 19
Disease duration 24 8
Sensorineural hearing loss +(5*) +(12*)
Ovarian dysfunction +(15*) +(12*)
 Intellectual disability
 Dementia
 Epilepsy
Cerebellar syndrome +(3*) +(11*)
 SDFS 3 2
 Impaired eyes movement + +
 Gaze-evoked horizontal nystagmus + +
 Gaze-evoked vertical nystagmus +
 Dysarthria + +
 Ataxia + +
 Positive Romberg’s test + +
Flaccid paresis +(?*) +(?*)
 Muscle weakness +UL < LL +UL < LL
 Muscle atrophy +UL < LL +UL < LL
 Tendon reflexes UL Diminished Diminished
 Tendon reflexes LL Absent Absent
 Gait Steppage Steppage
 High-arched palate + +
 Pes cavus and clawed toes + +
 Other features—Hashimoto disease + +
  1. Numbers in brackets (*) refer to age at diagnosis, years
  2. UL upper limbs, LL lower limbs, n.a. no data available
Laboratory findings
 Lactate elevation n.a. +
 CK elevation n.a. +
 FSH and LH elevation + +
 EMG Axonal, sensorimotor polyneuropathy Axonal, sensorimotor polyneuropathy
 Abnormal neuroimaging + +
  1. Numbers in brackets (*) refer to age at diagnosis, years
  2. UL upper limbs, LL lower limbs, n.a. no data available