Article Figures & Data
Figures
- Figure 1
-Family pedigrees of patients A, B, and C.
- Figure 2
-Axial T2 weighted MRI images A and B) of patient B show enlarging of cerebellum folia, cortical sulci and ventricles with slight hyperintensity of cerebral white matter related to early cerebellar atrophy.
Tables
- Table 1
The clinical and molecular data of our cases and additional selected reported CLN8 cases with LI-NCL
Cases Patient A Our patients
Patient BPatient 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
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