title: A CLN2 gene nonsense mutation is associated with severe caudate atrophy and dystonia in LINCL.
abstract: Clinical features and results of the blood DNA analysis are reported of a child affected with a distinct phenotype of the late infantile form of neuronal ceroid-lipofuscinosis (LINCL). He was affected by microcephaly and hypotonia since the fourth month of life; acquisition of motor and language abilities was severely impaired, and a disorder of communication with stereotyped movements followed. By age four, he developed signs and symptoms of progressive myoclonic encephalopathy along with motor and cognitive deterioration. Extrapyramidal signs were associated with neuroradiological findings of marked atrophy of the caudate nucleus. Specific curvilinear bodies were observed in blood lymphocytes and skin biopsy. Homozygous, nonsense mutation in the CLN2 gene was found giving origin to an Arg208stop, which produces an early transcription termination with loss of translation of about 50% of the gene product. Any relationship between the severe clinical features of our patient and the homozygous mutation here reported must be investigated on a larger number of LINCL patients bearing the same mutation.
authors.affiliation: Department of Neurological Sciences, University of Verona, Italy. asimon@borgoroma.univr.it
authors.forename: A
authors.initials: A
authors.lastname: Simonati
authors.forename: E
authors.initials: E
authors.lastname: Santorum
authors.forename: A
authors.initials: A
authors.lastname: Tessa
authors.forename: A
authors.initials: A
authors.lastname: Polo
authors.forename: F
authors.initials: F
authors.lastname: Simonetti
authors.forename: B D
authors.initials: BD
authors.lastname: Bernardina
authors.forename: F M
authors.initials: FM
authors.lastname: Santorelli
authors.forename: N
authors.initials: N
authors.lastname: Rizzuto
mesh_terms: D001284:Atrophy / Q000150:complications / Q000473:pathology; D002421:Caudate Nucleus / Q000473:pathology*; D002648:Child; D018389:Codon, Nonsense / Q000235:genetics*; D004421:Dystonia / Q000150:complications* / Q000503:physiopathology; D005074:Evoked Potentials, Visual / Q000502:physiology; D015870:Gene Expression / Q000235:genetics*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009472:Neuronal Ceroid-Lipofuscinoses / Q000150:complications* / Q000175:diagnosis / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*; D000091346:Tripeptidyl-Peptidase 1
chemical_list: D018389:Codon, Nonsense; D014157:Transcription Factors; D000091346:Tripeptidyl-Peptidase 1; C000717267:TPP1 protein, human