Neuropediatrics 2000; 31(4): 199-201
DOI: 10.1055/s-2000-7453
Short Communication

Georg Thieme Verlag Stuttgart · New York

A CLN2 Gene Nonsense Mutation is Associated with Severe Caudate Atrophy and Dystonia in LINCL

A. Simonati1 , E. Santorum2 , A. Tessa3 , A. Polo1 , F. Simonetti4 , D. B. Bernardina2 , M. F. Santorelli3 , N. Rizzuto1
  • 1 Department of Neurological Sciences, Section of Clinical Neurology, University of Verona, Italy
  • 2 Department of Child Neuropsychiatry, University of Verona, Italy
  • 3 Molecular Medicine and Neuroscience, Bambino Gesu` Hospital, Rome, Italy
  • 4 Child Neuropsychiatry Unit, Cuneo, Italy
Further Information

Publication History

Publication Date:
31 December 2000 (online)

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.

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Prof. Alessandro Simonati

Dipartimento di Scienze Neurologiche e della Visione - Sezione di Neurologia Clinica

Policlinico GB Rossi

37134 Verona

Italy

Email: e-mail: asimon@borgoroma.univr.it