Skip to main content
. 2020 Nov 25;8:204. doi: 10.1186/s40478-020-01084-4

Table 1.

Clinical symptoms of patients with CGG expansion in NOTCH2NLC

Patient ID 1 2 3 4 5 6 7
Sex F F M M F M M
Onset age 1 year 27 years 17 years 44 years 55 years 68 years 20 years
Repeat size 139 217,674 83, 184 116 135 132 128
Initial symptom Dev MW MW, RPD Ptosis RPD MW PD
Ptosis + + + + + + +
Ophthalmoplegia + + + + + + +
Dysphagia + + + - - + +
Dysarthria + + + + + + +
Facial weakness + + + - - + +
Limb muscle weakness + + + + + + +
Distal/proximal/both D (TA, Pe) D > P D > P D (TA) > P PU D = P D > P
Other muscle weakness Neck Neck Neck - - - -
Muscle atrophy Diffuse Distal Diffuse Distal - - Diffuse
Deep tendon reflex ↓↓ ↓↓ ↓↓ ↓↓
Sensory disturbance - - - + + + -
Cerebellar symptoms Tremor Ataxia - - Tremor Ataxia NA Ataxia
Eye abnormality VD RP RPD Mio, Pho RPD Cataract -
Ear abnormality Co SHL NA + + + -
HDSR 20 30 29 28 6 20 NA
Leukoencephalopathy + - NA NA + - +
Neuropathy confirmed by NCV + NA - + NA + +
ECG, UCG - Long QT - - - AV block, LVH -
CSF cells per µl 2 NA NA 2 1 1 4
CSF protein, mg/dl 60 NA NA 110 157 77 59
CK IU/L 203 654 1475 1886 63 735 436
Lactate mg/dl 19.6 14.0 17.3 NA 21.6 5.3 9.7

Co conductive deafness, Dev developmental delay, DL distal lower limb, DU distal upper limb, HDSR Hasegawa dementia rating scale-revised, LVH left ventricular hypertrophy; Mio miosis, MW muscle weakness, N neck weakness, NA not available, PD panic disorder, Pe peroneal, Pho photophobia, PU proximal upper limb, RP retinal pigmentation, RPD retinal pigmentary degeneration, SHL sensory hearing loss, TA tibialis anterior, VD visual disturbance