Table 1 Clinical, instrumental, biochemical and molecular findings in published patients with KARS mutations
Patient | Family | Age onset | Symptoms at onset | Clinical finding | Brain MRI | Visceral involvement/ systemic symptoms | Age at last follow up | Reference |
|---|---|---|---|---|---|---|---|---|
Pt 1 | Fam. 1 | Adulthood | Intermediate CMT, developmental delay, self-abusive behavior, dysmorphic features, and vestibular Schwannoma | n.a. | n.a. | n.a. | McLaughlin HM et al. 2010 [8] | |
Pts 2–8 | Fam. 2 | Childhood | Nonsyndromic hearing impairment | n.a. | n.a. | n.a. | Santos-Cortez RL et al. 2013 [9] | |
Pts 9–14 | Fam. 3–4 | Childhood | Nonsyndromic hearing impairment | n.a. | n.a. | n.a. | Santos-Cortez RL et al. 2013 [9] | |
Pt 15 | Fam. 5 | 16 months | n.a. | Psychomotor delay, hearing loss, strabismus, ophthalmoplegia, dystonia | Normal (6 months) | n.a. | Died at 3 years | Lieber et al. 2013 [4] |
Pt 16 | Fam. 6 | 6 weeks | Visual impairment | Microcephaly, psychomotor delay, seizures | Symmetrical thinning of cerebral WM and the corpus callosum (9 months); progression of myelination, symmetrical deep WM abnormalities (20 months) | n.a. | 10 years | McMillan et al. 2015 [5] |
Pt 17 | 5 weeks | Thin cc (4 months); loss of subcortical white matter volume, deep sulcation, and hypogenesis cc (5.3 years) | n.a. | 5 years | McMillan et al. 2015 [5] | |||
Pt 18 | Fam. 7 | 72 days | Nystagmus, failure to thrive, inability to fixate, microcephaly, hypertonicity, and extreme irritability | Microcephaly and failure to thrive, psychomotor delay, seizures (West syndrome) | Normal (age not reported) | n.a. | 18 months | Joshi et al. 2016 [6] |
Pt 19 | Fam. 8 | 9 months | n.a. | Developmental delay, seizures, nystagmus | n.a. | Hypertrophic cardiomyopathy | n.a. | Kohda et al. 2016 [11] |
Pt 20 | Fam. 9 | 18 months | Mild psychomotor delay | Mild myopathy,mild intellectual disability | Normal (13 years) | Hypertrophic cardiomyopathy | 14 years | Verrigni et al. 2016 [12] |
Pts 21–22 | Fam. 10 | First years | Hearing loss | Hearing loss, cognitive and psychiatric symptoms | Symmetrical confluent abnormalities in the frontal, periventricular WM and in the cc | no | 26–21 years | Zhou et al. 2017 [10] |
Pt 23 | Fam. 11 | First months | Developmental delay, microcephaly | Global developmental delay, microcephaly, hypotonia, seizures and sensorineural hearing loss | n.a. (CT: calcification) | n.a. | 18 years | Murray et al. 2017 [7] |
Pt 24 | First months | Hearing loss | n.a. | n.a. | 15 years | |||
Pt 25 | Fam. 12 | 3 months | Hypoacousia | Severe psychomotor delay, microcephaly, visual impairment, spastic tetraparesis | Progressive Leukoencephalopathy with Brainstem and Spinal cord Calcifications (see text for detail) | Microcytic hypochromic anemia | 19 months | This report (Pt A); Orcesi et al. 2011 [13] |
Pt 26 | Fam. 13 | 6 months | Seizures and psychomotor regression | Severe psychomotor delay, microcephaly, visual impairment, spastic tetraparesis with extrapyramidal signs,scoliosis | Progressive Leukoencephalopathy with Brainstem and Spinal cord Calcifications (see text for detail) | Hepatomegaly/microcytic hypochromic anemia | 7 years | This report (Pt B) |
Pt 27 | Fam. 14 | 6 months | hypoacousia | Psychomotor delay, microcephaly, visual impairment, spastic tetraplegia | Progressive Leukoencephalopathy with Brainstem and Spinal cord Calcifications (see text for detail) | Hepatopathy/microcytic hypochromic anaemia | 18 months | This report (Pt C) |