©istock.com/Andrea Obzerova
Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessCeroid-Lipofuscinosis, neuronal; differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for neuronal Ceroid lipofuscinosis comprising 1 guideline-curated and altogether 16 curated genes according to the clinical signs

ID
NP0770
Number of genes
15 Accredited laboratory test
Examined sequence length
16,1 kb (Core-/Core-canditate-Genes)
21,6 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
ATP13A23543NM_022089.4AR
CLN31317NM_001042432.2AR
CLN51077NM_006493.4AR
CLN6936NM_017882.3AR
CLN8861NM_018941.4AR
CTSD1239NM_001909.5AR
CTSF1455NM_003793.4AR
DNAJC5597NM_025219.3AD
KCTD7870NM_153033.5AR
MFSD81557NM_152778.3AR
PPT1921NM_000310.4AR
TPP11692NM_000391.4AR
CLCN62544NM_001256959.2AD
GRN1782NM_002087.4AR
NHLRC11188NM_198586.3AR

Informations about the disease

Clinical Comment

Neuronal ceroid lipofuscinoses are a group of clinically and genetically heterogeneous hereditary degenerative neurologic disorders that share the neuropathologic features of neuronal cell loss, particularly in the cerebral and cerebellar cortex, and accumulation of lipofuscin with characteristic ultrastructural appearance. Myoclonic and other seizure types occur. Developmental delays, dementia, and visual disturbances (especially in childhood forms) are variously associated with specific neuronal ceroid lipofuscinosis syndromes. There are more than a dozen forms of these neuronal ceroid lipofuscinoses, which are classified according to age at symptom onset or causative gene mutations. Most of the neuronal ceroid lipofuscinoses are inherited in an autosomal recessive manner, and less commonly in an autosomal dominant manner. Using Sanger sequencing, the diagnostic yield has been reported to be close to 30%. Thus, a negative result does not represent exclusion of the diagnosis.

References: https://www.ncbi.nlm.nih.gov/books/NBK1371/

https://doi.org/10.1186/s13024-018-0300-6

 

Synonyms
  • Alias for all fuscinoses: Batten disease (CLN3)
  • Alias: Jansky–Bielschowsky disease (CLN2)
  • Alias: Spielmeyer-Sjogren disease (CLN3)
  • Alias: Vogt-Spielmeyer disease (CLN3)
  • Aphasia, primary progressive; Dementia hereditary dysphasic disinhibition (GRN)
  • CLN2, variable age of onset; Jansky-Bielschowsky disease (TPP1)
  • CLN5: NCL, late infantile, Finnish variant; Finnish vLINCL (CLN5)
  • Ceroid lipofuscinosis, neuronal, 1, variable age of onset (PPT1)
  • Ceroid lipofuscinosis, neuronal, 10; CLN, cathepsin D-deficient; CLN, congenital (CTSD)
  • Ceroid lipofuscinosis, neuronal, 11 (GRN)
  • Ceroid lipofuscinosis, neuronal, 13, Kufs type (CTSF)
  • Ceroid lipofuscinosis, neuronal, 14 (KCTD7)
  • Ceroid lipofuscinosis, neuronal, 2; Spinocerebellar ataxia, AR 7 (TPP1)
  • Ceroid lipofuscinosis, neuronal, 3
  • Ceroid lipofuscinosis, neuronal, 4, Parry type; Kufs disease, AD (DNAJC5)
  • Ceroid lipofuscinosis, neuronal, 5 (CLN5)
  • Ceroid lipofuscinosis, neuronal, 6; CLN, Kufs type, adult onset (CLN6)
  • Ceroid lipofuscinosis, neuronal, 7; Macular dystrophy with central cone involvement (MFSD8)
  • Ceroid lipofuscinosis, neuronal, 8; CLN, 8, Northern epilepsy variant (CLN8)
  • DD: Epilepsy, progressive myoclonic 1A [Unverricht + Lundborg] (CSTB)
  • DD: Epilepsy, progressive myoclonic 2A [Lafora] (NHLRC1)
  • DD: Epilepsy, progressive myoclonic 2B [Lafora] (NHLRC1)
  • Dent disease; Hypophosphatemic rickets; Nephrolithiasis, type I (CLCN5)
  • Epilepsy, progressive myoclonic 3, with/-out intracellular inclusions (KCTD7)
  • Frontotemporal lobar degeneration with ubiquitin-positive inclusions (GRN)
  • Kufor-Rakeb syndrome; Spastic paraplegia 78, AR (ATP13A2)
  • Neuronal ceroid lipofuscinosis, NCL, infantile
  • Neuronal ceroid lipofuscinosis, juvenile; JNCL (CLN3)
  • Parkinson disease 9, Ar, juvenile-onset; PARK9 (ATP13A2)
  • Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis (CLCN5)
  • Santavuori disease; Sanatvuori-Haltia disease; CLN1 (PPT1)
Heredity, heredity patterns etc.
  • AD
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined