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Table 1 Phenotype of patients with the UBTF c.628G>A variant

From: Childhood neurodegeneration associated with a specific UBTF variant: a new case report and review of the literature

 Edvardson et al [1]
N = 7
Toro et al [2]
N = 4
Sedlackova et al [3]
N = 1
Present study
N = 1
Total
N = 13
Gender1M/6F2M/2F1M1M5M/8F
Age at publication, yo (median, interval)17 [8 - 23]12 [6 – 33]131213 [6 – 33]
Age at regression, yo, (median, [interval])3.5 [2.5 – 7]2.7 [2 – 3]1.3 – 25.83 [2 – 7]
DD prior to regression30Mild speech delayYes5 (33%)
Microcephaly6 acquired (1 borderline)1 acquired (borderline)NANo7/12 (58%)
Ataxia341 (early on)1 (early on)9 (67%)
Extrapyramidal signs6 (3 dystonia, 2 rigidity,1 chorea)3 (3 dystonia, 1 chorea)1(dystonic attacks)1 (dystonia, chorea)11 (85%)
Pyramidal signs64YesBrisk DTR12 (92%)
Behavioural disordersNA4 (hyperactivity, impulsivity, ‘autistic behaviour’)Apathy, social interaction difficultiesApathy, agitation, friendly6/6 (100%)
DysarthriaNA4NAYes5/5 (100%)
Swallowing difficultiesNA3Yes (11yo)Yes (11 yo)5/6 (83%)
Seizures/Epilepsy3 (onset 5, 14 and 15yo)0Yes (multiple types) 6 yoYes (behavioural arrest) 11 yo5 (38%)
Outcome7 non verbal with profound ID, 6 non ambulatory4 language regression, 1 non ambulatory, 1 few steps, 4 severe IDNon verbal, severe ID, non ambulatoryNon verbal, severe ID, non ambulatory13 non verbal or severe language impairment and severe ID (100%), 9 non ambulatory (69%), 1 limited ambulation
EEG abnormalities4 (no details)Abnormal background rhythmsDiffuse β activity (5yo), sharp waves (6yo), continuous bilateral FT spikes, slow background.Yes (see text)7 abnormal (53%)
Brain MRI7 cerebral atrophy and T2 white matter hs, 5 cerebellar atrophy4 cerebral atrophy, cerebellar atrophy and white matter hsCerebral atrophy, white matter hsCerebral atrophy, mild cerebellar atrophy, white matter hs13 cerebral atrophy and white matter hs (100%), 10 cerebellar atrophy (77%)
  1. yo years-old, M male, F female, DD developmental delay, DTR deep tendon reflexes, ID intellectual disability, FT frontotemporal, hs hypersignal, NA not available