The clinical and molecular data of our cases and additional selected reported CLN8 cases with LI-NCL
| Cases | Patient A | Our patients Patient B | Patient C | Gao et al8 2018 | Allen et al9 2012 | Reinhardt et al. 2009 patient 3 & 410 | Beesley et al1 2016 child B |
|---|---|---|---|---|---|---|---|
| Country of origin | Saudi Arabia | Saudi Arabia | Saudi Arabia | China | Ireland | Turkey | UK |
| Consanguinity | Yes | Yes | Yes | No | No | Yes | No |
| Abortion history | Yes | Yes | Yes | Not reported | Not reported | Not reported | Not reported |
| Onset of disease | 2 years | 2 years | 3 years | 4 years | 4 years | 2.5 years | 4 years |
| Age at diagnosis | 4.6 years | 3 years | - | Not mentioned | 5 years | Not mentioned | Not mentioned |
| Initial symptoms | Myoclonic seizures | Unsteady gait and frequent falls | Speech delay Ataxic gait | Seizures | Increasing clumsiness | Delayed speech development | Motor regression + worsening gate |
| Clinical presentations | Myoclonic seizures Cognitive, speech, and motor regression Ataxic gait Visual impairment | Seizures Motor, speech, and cognitive regression Ataxic gait Visual impairment | Speech delay Motor and cognitive regression Seizures Visual impairment | Seizures Motor, cognitive and speech regression Ataxic gait Autism-like Visual impairment Dysphagia | Developmental delay Speech, psychomotor and cognitive regression Visual impairment Seizures | Speech delay seizures Motor and cognitive regression Visual failure Behavioral changes | Language delay Ataxic gait Motor regression Seizures Visual impairment Dysphagia |
| Type of seizures | Myoclonic Seizures | Myoclonic Seizures GTC | Myoclonic Seizures GTC | Refractory Seizures | Complex partial seizures | Myoclonic Seizures | Myoclonic Seizures Drop attack |
| Motor disability | Chair bound by age of 5 years | Chair bound by age of 4 years | Bedridden by age of 6 years | Bedridden by age of 8.6 years | Chair bound by age of 5.5 years | Bedridden by age of 8 years | Chair bound by age of 5.9 years |
| Neurophysiology (EEG, VEP, ERG) | EEG: diffuse slow background with generalized epileptiform discharges. ERG: normal VEP: reduced | EEG: diffuse slow background activity with generalized epileptiform discharges. ERG: absent VEP: reduced | EEG: Diffuse slow background activity with generalized epileptiform discharges. ERG & VEP: not done | EEG: irregular and slow background activity with generalized sequences of atypical spike-wave discharges. ERG & VEP: not mentioned | EEG: slow background, complex partial seizures ERG: absent VEP: reduced | EEG: spileptic discharges with generalized polyspike wave activity. ERG &VEP: not mentioned | EEG: not mentioned VEP: abnormal ERG: absent |
| Neuro imaging | MRI: cerebellar atrophy | MRI: cerebral and cerebellar atrophy | MRI: cerebellar atrophy | MRI: cerebral and cerebellar atrophy | MRI: hyperintensity of white matter and cerebellar atrophy. | MRI: cerebral and cerebellar atrophy | Cerebellar atrophy, low signal change abnormality in thalami bilaterally |
| Genetic study | CLN8 c.(?_-1)(543+1_544-1)del spans exon 1 | C.699-700delGT pPhe234Profs*12 del spans exon 2 | Deceased before. | Two variants: c.298 C > T (p.Gln100Ter); c.551 G > A(p.Trp184Ter) | c.562_563delCT, p.(Leu188Valfs*58) (paternal); 8p23.3 terminal deletion, de novo | c.544-2566_590del2613 | Hemizygous for a novel variant: 54 kb deletion (paternal); c.728T>C P.(Leu243Pro) (maternal) |
| location | Exon1 | Exon2 | - | Exon2 & Exon3 | Exon 3 | In3/Exon3 | Not mentioned |
| Age of death | Alive | Alive | 8 years | Alive at age of 8 years | Alive at age of 5.5 years | Both alive at 10 years | 9 years |