Table 1.
Clinical manifestations, presence of brainstem tau pathology, and HLA subclass in nine patients with anti-IgLON5 disease
| Patient [ref] | Age, sex | Disease duration | Clinical presentation | Brainstem tau- pathology | % IgG4 (serum) | HLA type | Immunotherapy |
|---|---|---|---|---|---|---|---|
| 1 | 67, M | 9 years | See text | Yes (PSP) | 80%* |
DRB1*01:02 DRB1*03:01 DQB1*02:01 DQB1*05:01 |
No |
| 2 [4] | 69, F | 15 months | Recurrent episodes of syncope, anxiety, obsessive thinking, compulsions, mild downgaze palsy, parasomnia including continuous limb movements and lip sucking during night time sleep, central apnea, nocturnal hypoxemia and bradycardia, cognitive decline with MMSE 16 | No | n.a |
DRB1*03:01 DRB1*16:01 DQB1*05:02 DQB1*02:01 |
Steroids |
| 3 [5] | 71, M | 2 years | Insomnia with nocturnal confusion and enuresis, mild forgetfulness followed by gait disturbance, ptosis, dysphagia, dysarthria, velopalatine and oromandibular dyskinesias, spontaneous myoclonus, postural tremor of upper limbs | No | 75% |
DRB1*10:01 DQB1*05:01 |
IVIG |
| 4 [14] | 54, F | 13 years | Dysphagia, mild bilateral ptosis, slightly broad-based gait. Insomnia with daytime sleepiness, unintentional sleep episodes at work, parasomnia (talking, hand and leg jerking), apnea-hypopnea index 14.6/h, nocturnal stridor, severe episodes of respiratory insufficiency | Yes | 76% |
DRB1*10:01 DQB1*05:01 |
No |
| 5 [24] | 53 M | 6 years | Sleep disorder including parasomnia, sleep apnea, stridor, mild excessive daytime sleepiness, mild dysphagia and enuresis | Yes | 71% |
DRB1*10:01 DQB1*05:01 |
Steroids, cyclophosphamide |
| 6 [24] | 76, F | 6 months | Severe gait instability, parasomnia, sleep apnea, stridor, saccadic intrusions on pursuit, dysphagia, dysarthria, vocal cord paresis, central hypoventilation | Yes | 45% |
DRB1*10:01 DQB1*05:01 |
Steroids, cyclophosphamide |
| 7 | 82, M | 6 months | See text | No | 96% |
DRB1*10:01 DRB1*15:01 DQB1*05:01 DQB1*06:02 |
IVIG, rituximab |
| 8 [22] | 77, F | 10 years | Probable anti-IgLON5 disease. Initial dyspnea and dysphagia, later stridor, hallucinations and confusion. Bilateral vocal cord paralysis, absent tendon reflexes and pan-hypoesthesia distal in both lower extremities; died unexpectedly during sleep | Yes | n.a | n.a | No |
| 9 | 76, F | 9 years | See text | Yes | n.a |
DRB1*01 DRB1*11 DQB1*03 DQB1*05 |
Steroids, IVIG, rituximab |
M male, F female, n.a. not available, IVIG intravenous immunoglobulins
*IgG4 in CSF (serum not available)