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Table 4 Patients with non-neurotransmitter disorders with a confirmed inherited metabolic or genetic disease

From: Prevalence of inherited neurotransmitter disorders in patients with movement disorders and epilepsy: a retrospective cohort study

Patients/sex/current age/diagnosis

Clinical features/age of onset/age of diagnosis

CSF* HVA/5-HIAA/3-OMD/othe r (LP age)

Genetic testing

1/F/4 yr/MTHFR def.

GDD, epilepsy, tremor/4 d/10 mo

N/↓112/N/↓5-MTHF <5 (1 yr)

Homozygous novel c.379C > T (p.His127Tyr) in MTHFR gene

2/F/3 yr/cobolamin G def.

GDD, epilepsy/2 mo/7 mo

↓245/↓109/N/↓5-MTHF 28 (4 mo)

Homozygous known [20] c.340_166A > G in MTR gene

3/M/11 yr GLUT1 def.

GDD, epilepsy, 2 yr/11 yr

N/N/N/glucose 2.1 (8 yr)

Heterozygous, de novo, known [21] c.823G > A (p.Ala275Thr) in SLC2A1 gene

4/F/16 yr/calcium channelopathy

GDD, epilepsy, ataxia, tremor/15 mo/10 yr

↓123/N/N (10 yr)

Heterozygous, de novo, novel c.2134A > G (p.Ile712Val) in CACNA1A gene

5/M/8 yr/calcium channelopathy

GDD, epilepsy, left hemiparesis/6 mo/4 yr

N/N/N (2 yr)

Heterozygous, de novo, novel c.4046G > A (p.Arg1349Glu) in CACNA1A gene

6/F/13 yr/ataxia-oculomotor apraxia type 1

GDD, ataxia, dysarthria, epilepsy/ 1.5 yr/12 yr

N/↓50/N (7 yr)

Homozygous 0.132 MB deletion at 9p21.1 in aCGH loss of both copies of APTX gene

7/F/19 yr/HSP type 11

GDD, rigidity, spasticity, dystonia/5 yr/18 yr

N/N/N (16 yr)

Heterozygous known [22,23] c.3664_3665insT novel r.4667_4774del (36 AA del) in SPG11 gene (RT-PCR)

8/M/11 yr/Allen-Herdon-Dudley synd.

GDD, epilepsy, hypotonia/1 yr/9 yr

↓145/N/N (7 yr)

Heterozygous novel c.869C > T (p.Ser290Phe) in SLC16A2 gene

9/M/passed away/ Prader-Willi synd.

Hypotonia/birth/8 mo following death

N/N/N (2 wk)

Abnormal methylation of SNRPN gene

10/F/4 yr/KCNQ2 EE

GDD, epilepsy/1 wk/4.5 yr

N/N/N (1 mo)

Heterozygous, de novo, novel c.700A > C (p.Thr234Pro) in KCNQ2 gene

11/ F/3 yr/STXBP1 EE

GDD, epilepsy/birth/4 yr

N/N/N (3mo)

Heterozygous, de novo, novel c.364C > T (p.Arg122X) in STXBP1 gene

12/ M/8 mo/hyperekplexia

GDD, epilepsy, central hypotonia/birth/7 mo

N/N/N (1mo)

Homozygous known [24] c.1274C > T (p.Tyr425Met) in SLC6A5 gene

13/ M/2 yr/chromosomal abnormality

GDD, epilepsy/birth/1 yr

N/N/N (7mo)

Novel 20q13.33 1.2 Mb deletion on aCGH

14/M/passed away (2 mo)/asparagine synthetase def.

GDD, hypotonia/2 mo

↓240/ ↓183/N (2mo)

Homozygous known [25] c.1648C > T; (p.Arg550Cys) in ASNS gene

  1. Abbreviations: CSF cerebral spinal fluids, HVA homovanillic acid, 5-HIAA 5-hydroxyindol acetic acid, 3-OMD 3-O-methyldopa, LP lumbar puncture, def. deficiency, MTHF methylenetetrahydrofolate, d day(s), mo month(s), yr year(s), GDD global developmental delay, N normal, GLUT1 glucose transporter 1. 3: ; ↑ = elevated; ↓ = decreased.
  2. *Age appropriate reference ranges for CSF neurotransmitters, amino acids and glucose: CSF HVA: 0–0.2 years = 337–1299 nmol/L; 0.2 - 0.5 years = 450–1132 nmol/L; 0.5 – 2 years = 294 – 1115 nmol/L; 2 – 5 years = 233–928 nmol/L; 5 – 10 years = 218–852 nmol/L; 10 – 15 years = 167–563 nmol/L; adults = 145–324 nmol/L.
  3. CSF 5HIAA: 0–0.2 years = 208 – 1159 nmol/L; 0.2 - 0.5 years = 179 – 711 nmol/L; 0.5 - 2 years = 129 – 520 nmol/L; 2 – 5 years = 74 – 345 nmol/L; 5 – 10 years = 66 – 338 nmol/L; 10 – 15 years = 67 – 189; adults = 67–140 nmol/L.
  4. CSF 3-O-MD: 0–0.2 years = <300 nmol/L; 0.2 - 0.5 years = <300 nmol/L; 0.5 – 2 years = <300 nmol/L; 2 – 5 years = <150 nmol/L; 5 – 10 years = <100 nmol/L; 10 – 15 years = <100 nmol/L; adults = <100 nmol/L.
  5. CSF MTHF: 40–120 nmol/L all age groups.
  6. CSF glucose: 2.1-3.6 mmol/L.
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172