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Table 1 Characteristics of adolescence/adult onset MTHFR deficient patients (N = 24 patients)

From: Adolescence/adult onset MTHFR deficiency may manifest as isolated and treatable distinct neuro-psychiatric syndromes

Mean age at neurological onset (n = 24)

22.4 (+/− 12.1, 11–54)

Age at diagnosis (n = 21)

28.8 (+/− 15.3, 11–67)

Age at description (n = 24)

30 (+/−  16.2, 12–69)

Thrombosis

5/24 (21%)

Mild learning disabilities

6/21 (29%)

Acuteness of occurrence of at least one neurological symptoma

11/20 (55%)

Neurological presentationb

Gait disorder 11/24 (46%)

LL Weakness 10/10 (100%). 3/10 associated with UL weakness. 1/10 with left sided weakness

UMN signs 7/7 (100%)

Spasticity 5/6 (83%)

Peripheral Neuropathy 3/4 (75%)

Ataxia 4/8 (50%)

Epilepsy 7/24 (29%)

GTCS 4/7 (57%), 1 with myoclonus mimicking JME

Absence 1/7 (14%)

Focal seizures 2/7 (28%)

Cognitive decline 5/24 (21%)

Psychosis 3/24 (12%)

Encephalopathy 1/24 (4%)

Stroke 1/24 (4%)

Neurological symptoms till last follow up

Gait disorder 23/24 (96%)

LL Weakness 21/23 (91%). 6/23 associated with UL weakness. 1/10 with left sided weakness

UMN signs 19/19 (100%)

Spasticity 14/17 (82%)

Peripheral Neuropathy 10/14 (71%)

Ataxia 7/20 (35%)

Epilepsy 12/24 (50%)

GTCS 5/9 (55%), 1 with myoclonus in a context of PME (same patient presenting as JME)

Absence 1/9 (11%)

Focal seizures 3/9 (33%)

Cognitive decline 17/23 (74%)

Psychosis 4/24 (17%)

Encephalopathy 6/20 (30%)

Other

Obsessions (n = 1), dysarthria (n = 1), myoclonus (n = 1, with PME), paresthesia (n = 1), episodic diplopia (n = 1), reduced visual acuity (n = 1), urinary and fecal incontinence (n = 1), anorexia with progressive withdrawal (n = 1), tremor (n = 1), UL dysmetria (n = 1), coma (n = 1).

Delay between first neurological manifestation and occurrence of other neurological symptomc

2.8 +/− 2.9, 0–9

Evolution under treatment

Improvement 15/18 (83%)

Stabilization 3/18 (17%)

Cerebral MRI

White matter abnormalities 12/17 (70%)

Normal 3/17 (18%)

Cerebral atrophy 7/17 (41%)

Spinal cord MRI

Normal 3/6 (50%)

SCA 2/6 (33%)

PCHS 1/6 (17%)

Biological data

Initial homocysteinemia (n = 16)

177.3 +/− 49.5, 115–320

Initial methioninemia

Low 13/17 (77%), Normal 4/17 (23%)

Homocysteinemia after treatment (n = 13)

76.1 +/−22.2, 50–118

  1. Encephalopathy was defined as an acute or sub-acute onset of cognitive decline with drowsiness and/or confusion
  2. aSeizures and strokes were not considered in this row
  3. bFour patients had mixed neurological presentations and were counted twice (patientsn°9; 15; 16; and 19)
  4. cSymptoms considered: gait disorder, cognitive disorder, epilepsy, psychosis, encephalopathy, and stroke
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172