Table 1 Patients with sensory polyneuropathy of genetic etiology.
From: Expanding the genotype–phenotype correlation of childhood sensory polyneuropathy of genetic origin
Patient# | Age (years/weeks) at presentation (current age in years) | Sex | Gene | Variant(s) | Clinical presentation of the cohort |
|---|---|---|---|---|---|
Mitochondrial sensory polyneuropathy | |||||
1** | 1 year (20) | F | POLG | [c.2243G>C (p.W784S)]; [c.3609_3612dupAACT] | Epilepsy, ataxia, speech delays, good strength on exam, nystagmus, dysarthria, and absent reflexes, liver problems |
2 | 10 years (14) | F | HADHA | [c.1528G>C, (p.E510Q)]; [c.1620 + 2_162 + 0delTAAGG] | Retinitis pigmentosa, cardiac atrioventricular (AV) valve insufficiency, seizures with episodic weakness and gait abnormalities. Tightened heel cords, decreased lower extremity reflexes, difficulty walking on heels and normal strength on exam |
3 | 1 year (5) | M | HADHA | [c.1418C>A, (p.Ala473Asp)] | Cardiomyopathy, difficulty walking, and motor delay; increased heel cords, slightly decreased strength and reflexes in lower extremities, bilateral hand tremors, and waddling gait on exam |
4* | 4 years (10) | M | COX20 | [c.41A>G (p.K14R)]; [c.157 + 3G>C]; [c.340G>A (p.Gly114Ser)] | Respiratory distress, speech and gross motor delays, alternating esotropia, strabismus, gait ataxia, hypotonia and hyperreflexia, sensory polyneuropathy per EMG/NCS |
5* | 4 years (18) | F | COX20 | [c.41A>G (p.K14R)]; [c.157 + 3G>C]; [c.340G>A (p.Gly114Ser)] | distal-extremity weakness, spasticity, and hearing loss, farsightedness and esotropia, developed gait instability, chronic gastrointestinal problems with family history of Celiac disease |
6 | 10 years (11) | M | FH | [c.697C>T (p.R233C)]; [c.1431_1433dup] | Focal epilepsy seizures and infantile spasms, abnormal MRI, strabismus and visual impairment, fumarate hydratase deficiency, weight gain, fatigues, weakness, generalized severe hypotonia, global developmental delay, anemia, focal cerebral dysfunction, cardiac defects, pulmonary artery hypertension, pulmonary stenosis, urinary tract infection, and vomiting |
7* | 3 weeks (17) | M | ATXN2 | [c.1564_1565delGA (p.Glu522Ilefs43)] | Ataxia, developmental delay, and myoclonic jerks (onset age 10). Myoclonic jerks, bradykinesia, spasticity, decreased pinprick, vibration and proprioception in his feet, dysmetria, absent reflexes in low extremities and wide based ataxic gait on exam |
8* | 3 weeks (17) | M | ATXN2 | Ataxia, developmental delay, and myoclonic jerks | |
9 | 4 years (14) | F | ATXN2 | 64 and 22 CAG repeats | Ataxia, dysphagia, developmental delay, dysarthria, increased tone in extremities and axial hypotonia, decreased vibration and proprioception, ataxia and dysmetria, and absent tendon reflexes |
Ataxia telangiectasia | |||||
10* | 6 years (12) | F | ATM | [c.1564_1565delGA (p.Glu522Ilefs43)] | Ataxia, telangiectasia and myoclonus |
11* | 4 years (11) | F | ATM | [c.1564_1565delGA (p.Glu522Ilefs43)] | Myoclonus, ataxia has been progressing and has been clumsy since infancy. Decreased reflexes, nystagmus and dysarthria on exam |
12 | 3 years | F | ATM | [c.4544dup (p.Asn1515Lysfs*16)]; [c.7397C>A (p.Ala2466Glu)]; [c.7502A>G (p.Asn2501Ser)] | Balance problems, drooling and fine motor problems, in-toeing of gait, frequent ear infections, difficulty maintaining sleep, suggestive of sensory ataxia |
13 | 9 years (10) | F | FXN | 933 & 933 GAA triplet repeats | Gait difficulty since early childhood , pain in her legs, very poorly coordinated |
14 | 6 years (16) | F | FXN | 1250 & 899 GAA repeats | Ataxia, developmental delay, progressive ataxia. Good strength but decreased vibration in her extremities with ataxia and present reflexes on exam |
15 | 3 years (10) | M | FXN | 933 & 10 GAA repeats; [c.317 T>C, (p.Leu106Ser)] | Ataxia, leg pain, easy fatigue, attention deficit hyperactivity disorder (ADHD) |
16 | 8 years (10) | F | FXN | 1066 and 866 GAA repeats | Cardiomyopathy, poor coordination, abnormal gait, scoliosis, bladder dysfunction, and ataxia |
Spastic paraplegia | |||||
17 | 4 years (16) | F | ZFYVE26 | [c.2300G>A, (p.767H)]; [c.2799C>T, (p.L933 =)] | Progressive ataxia, seizures, scoliosis, cerebellar atrophy, and hearing loss. Hypotonia, absent reflexes in lower extremities, ataxia, and tremulousness on exam |
18 | 10 years (18) | M | SPG7 | [c.1A>G, p.M?] | Scoliosis and gait abnormalities. Decreased strength in lower extremities with contractures, decreased vibration and temperature sensation, and diminished reflexes in lower extremities on exam |
Giant axonal neuropathy | |||||
19 | 6 years (10) | M | GAN | [c.851 + 1G>A] (homozygous) | Progressive gait abnormality, hammer toes, high arched feet bilaterally, absent distal tendon reflexes in the lower extremities, abnormal brain MRI |
20 | 2 years (10) | F | GAN | [c.805C>T (p.Arg269Trp)]; [c.732delT (p.Ile244MetfsX33)] | Gait abnormality, decreased muscle bulk in the bilateral lower extremities and distal hands, absent deep tendon reflexes, flexor plantar responses, vocal cord paralysis, episodes of tachycardia, difficulty breathing, poor cough reflex, difficulty in swallowing |
