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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

+

+

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