Table 1 Summary of clinical features
From: An oligodendrocyte silencer element underlies the pathogenic impact of lamin B1 structural variants
F1-1 | F1-2 | F1-3 | F1-4 | F1-5 | F2-1 | F2-2 | F2-3 | F3-1 | F3-2 | F4-1 | |
|---|---|---|---|---|---|---|---|---|---|---|---|
Ethnicity | European | European | European | European | European | European | European | European | Northern European | NorthernEuropean | European |
Current Age | 80 | 78 | 48 | 52 | 17 | 84 | 57 | 17 | 74 | 53 | 45 |
Sex | M | M | F | M | M | M | F | F | F | F | M |
Family History Suggestive of LD | No | No | No | No | No | No | No | No | No | No | Yes (mother and maternal grandmother with neurological regression around 30 years and death a few years later) |
Comorbidities | gout, diabetes, Parkinson, axonal sensorimotor polyneuropathy | hypothyroidism, sensorineural hearing loss, Meniere, posterior vitreous detachment, hypertension, essential tremor, mild cognitive impairment, irritable bowel syndrome | asthma, irritable bowel syndrome, migraines, goiter, erythema nodosum, chronic pain, carpal tunnel syndrome | hypothyroidism, depression, back pain | failure to thrive, microcephaly, global developmental delay, autistic spectrum disorder, learning difficulties, mild dysmorphic facial features | osteoarthritis | depression, anxiety | speech delay, learning difficulties, behavioral difficulties | N/A | chronic dysuria and UTIs, refractory depression, hypothyroidism, hyperlipidemia, panhypopituitarism, vitamin B12 deficiency, ankylosing spondylitis, fibromyalgia | neurological sequelae from MVA at Age 31 |
Age of Onset | N/A | N/A | N/A | N/A | N/A | N/A | 30 | N/A | N/A | N/A | 31 |
Symptoms at Onset | N/A | N/A | N/A | N/A | N/A | N/A | autonomic symptoms | N/A | N/A | N/A | Unsteady Gait and Dysautonomia |
Dysautonomic Symptoms | Yes | No | Yes | Yes | No | No | Yes | Yes | No | Yes | Yes |
Documented Orthostatic Hypotension | Yes | No | No | No | No | No | N/A | N/A | No | Yes | N/A |
Tilt table | N | N/A | N/A | N/A | N/A | N/A | N/A | N/A | N/A | N | N/A |
Neurological Examination | consistent with Parkinson and polyneuropathy | slightly unsteady gait and the inability to perform the tandem gait | slightly slow tongue movements, mild weakness in shoulder abduction, slightly slow fine finger movements and an absent right ankle jerk | brisk reflexes, 3-5 beats of clonus, down going plantar, decreased sensation on the left L5-S1 distribution, slow and hesitant gait | normal | difficulty walking attributed to osteoarthritis | nystagmus, hyperreflexia and spasticity | lower limbs hyperreflexia with left plantar unresponsiveness | N/A | gait disturbance, mild hyperreflexia | spastic gait, dysdiadokokinesia on the left side, brisk deep tendon reflexes, clonus, Babinski, dysautonomia at age 33 |
Neurodegeneration Suggestive of LD | No | No | No | No | No | No | No | No | No | No | Yes (bed-ridden, no sphincter control, gastrotomy at age 39) |
MRI Evidence of LD (Age at MRI) | No (73) | No (72&77) | No (41) | No (46) | No (5) | No (75) | No (47) | No (7) | N/A | No (44) | Yes (32,34,35) |
