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Clinico-pathological manifestations of variant late infantile neuronal ceroid lipofuscinosis (vLINCL) caused by a novel mutation in MFSD8 gene.

Abstract：

:Neuronal ceroid lipofuscinosis (NCL) refers to a growing heterogeneous group of neurodegenerative disorders characterized by lysosomal accumulation of abnormal autofluorescent material. NCLs are traditionally classified clinically according to their age of onset. Variable late infantile NCL (vLINCL) is the most genetically heterogeneous subtype as it has been shown to be caused by mutations in at least six genes. We report on 5 patients of a consanguineous family who presented in early childhood with intractable seizures, severe cognitive and motor decline, behavioral impairment and progressive retinal degeneration. Disease course was severe; all patients were in a vegetative state by the second decade of life, and eventually die prematurely (except in one case). Ultrastructural studies of brain and rectal mucosa disclosed accumulation of storage material in various patterns including fingerprint, curvilinear, and granular osmiophilic deposits consistent with the diagnosis of NCL. Brain pathologic features from a living patient are first reported here and shed light on disease progression and pathogenesis. Using a combination of whole genome autozygosity mapping and candidate gene direct sequencing, we identified a mutation in MFSD8, c.472G>A (p.Gly158Ser), which was found to segregate with the disease phenotype in the family. This study underscores the importance of a combined clinic-molecular workup in NCLs and other neurodegenerative conditions.

journal_name

Eur J Med Genet

journal_title

European journal of medical genetics

authors

Mandel H,Cohen Katsanelson K,Khayat M,Chervinsky I,Vladovski E,Iancu TC,Indelman M,Horovitz Y,Sprecher E,Shalev SA,Spiegel R

doi

10.1016/j.ejmg.2014.09.004

subject

Has Abstract

pub_date

2014-11-01 00:00:00

pages

607-12

issue

11-12

eissn

1769-7212

issn

1878-0849

pii

S1769-7212(14)00183-9

journal_volume

57

pub_type

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