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Table 2 PMP22 and 5HTTLPR genotypes, clinical symptoms and medication of HN patients (control group)

From: Psychiatric symptoms of patients with primary mitochondrial DNA disorders

ID

PMP22 mutation

5HTTLPR genotype

Symptoms

Medication

(with total daily dose)

20

PMP22 duplication

L/L

Mild atrophy of the hand and feet muscles

-

21

PMP22 duplication

L/L

Pes equinovarus, moderate paresis in the distal muscles of the legs

-

22

PMP22 deletion

S/S

Sensory disturbancies in the lower limbs, neuropathy to pressure palsy

-

23

PMP22 duplication

S/S

Generalized muscle weakness, walking difficulty, distal type hypesthesia in the limbs, excavated feet

pregabalin (300 mg)

duloxetine (30 mg)

24

PMP22 duplication

L/S

Paresthesia, distal type hypesthesia in the limbs, muscle cramps, gait instability

-

25

PMP22 duplication

L/S

Distal type muscle weakness in the limbs, tremor in the hands

chlordiazepoxide

(5 mg)

tolperisone (150 mg)

propranolol (40 mg)

26

PMP22 duplication

L/S

Excavated feet, moderate distal paresis of the limbs, ataxia

-

27

PMP22 duplication

S/S

Mild paresis in the hand and feet muscles

-

28

PMP22 duplication

S/S

Moderate distal weakness of the limbs, distal type hypesthesia, head tremor, gait instability. Associated disorders: diabetes mellitus, hyperlipidaemia

duloxetine (60 mg)

gabapentin (600 mg) rosuvastatine (20 mg)

ezetimibe (10 mg)

29

PMP22 duplication

L/L

Moderate atrophy and paresis in the hand and feet muscles, gait instability. Associated disorder:

asthma bronchiale

-

  1. Abbr.: PMP22 peripheral myelin protein-22; 5HTTLPR: serotonin-transporter-linked polymorphic region; S/S genotype: short-short homozygous; L/L genotype: long-long homozygous; L/S genotype: long-short heterozygous