PMC full text:
Table 1.
Summary of clinical findings in the proband described in this study compared with other patients with YARS1-associated dominant intermediate Charcot–Marie–Tooth neuropathy type C (DI-CMTC)
| c.922G > T (p.Asp308Tyr) current study | c. 121G > A (p.Gly41Arg) (Jordanova et al. 2003; Thomas et al. 2016) | c. 586G > A (p.Glu196Lys) (Jordanova et al. 2003; Thomas et al. 2016) | c.586G > C p.Glu196Gln (Gonzaga-Jauregui et al. 2015) | c. 458-469del (p.153-156del) (Jordanova et al. 2006) | c.241_242delGAinsAT (p.Asp81Ile) (Nam et al. 2022; Hyun et al. 2013) | c.497A > G (p.Tyr166Cys) (Nam et al. 2022) | |
|---|---|---|---|---|---|---|---|
| Age of onset | 18 yr | 5–20 yr | 7–59 yr | 16 yr | NR | 23 yr | 17–27 yr |
| Country | United States | United States | Bulgaria | NR | Belgium | Korea | Korea |
| Inheritance | Unknown (possible de novo) | Autosomal dominant | Autosomal dominant | Autosomal dominant | De novo | Unknown | Autosomal dominant (2/3); unknown (presumed de novo) (1/3) |
| Presenting symptom | Distal upper extremity weakness | Ankle dorsiflexion weakness | Ankle dorsiflexion weakness | NR | NR | Distal muscle weakness | Distal muscle weakness and atrophy |
| Pes cavus (HP:0001761)/hammertoe (HP:0001765)a | No/no | Yes (13/15)/Yes (3/15) | Yes (22/27)/Yes (3/27) | Yes/yes | NR | Yes | Yes (3/3)/NR |
| Upper limb distal weakness (HP:0008959)a | Yes | Yes (2/21) | Yes (14/27) | Yes | NR | Yes | Yes (3/3) |
| Upper limb proximal weakness (HP:0008997)a | Yes | Yes (a few, mild) | No | NR | NR | NR | NR |
| Lower limb distal weakness (HP:0009053)a | Yes | Yes (9/15) | Yes (16/27) | Yes | NR | Yes | Yes (3/3) |
| Lower limb proximal weakness (HP:0008994)a | Yes | Yes (2/15) | No | NR | NR | Yes | NR |
| Muscle atrophy (HP:0008944; HP:0007149)a | Yes (distal UE) | Yes (15/15 LE, 11/15 UE) | Yes (27/27 LE, 14/27 UE) | Yes | NR | Yes | Yes |
| Distal sensory impairment (HP:0002936)a | No | Yes (21/21) | Yes (20/27) | No | NR | Yes | Yes |
| Areflexia/hyporeflexia (HP:0001284)a | Yes (at most recent exam) | Yes (15/15) | Yes (26/26) | Yes | NR | No | Yes (1/3) |
| Hyperreflexia (HP:0001347)a | Yes (knees/ankles, at disease onset) | NR | NR | NR | NR | No | Yes (3/3; knees) |
| Hand tremor (HP:0002378)a | Yes | Yes (13/15) | No | NR | NR | NR | No |
| Other symptoms | Rotary nystagmus (16 y; HP:0001583), tongue fasciculations (HP:0001308), kyphoscoliosis (HP:0002751)a | — | Kyphoscoliosis (HP:0002751)a (2/27) | NR | — | — | — |
| Median motor NCVs (m/sec) | 65.2 | 29.5–45.6 (25/25 abnormal) | 24.7–57.8 (15/18 abnormal) | NR | NR | 29.1 (left), 45.1 (right) (abnormal) | 37.4–41.5 (3/3 abnormal) |
(NR) Not reported, (UE) upper extremities, (LE) lower extremities, (NCV) nerve conduction velocity.
aHuman Phenotype Ontology (HP) terms for peripheral neuropathy phenotypes.