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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