A CLN2 gene nonsense mutation is associated with severe caudate atrophy and dystonia in LINCL.

A CLN2 gene nonsense mutation is associated with severe caudate atrophy and dystonia in LINCL. Research Abstract Details 

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A CLN2 gene nonsense mutation is associated with severe caudate atrophy and dystonia in LINCL. Abstract Text:

A Simonati,E Santorum,A Tessa,A Polo,F Simonetti,B D Bernardina,F M Santorelli,N Rizzuto,A Simonati,E Santorum,A Tessa,A Polo,F Simonetti,B D Bernardina,F M Santorelli,N Rizzuto,

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.

A CLN2 gene nonsense mutation is associated with severe caudate atrophy and dystonia in LINCL. Publishing Authors By Initials

A Simonati,E Santorum,A Tessa,A Polo,F Simonetti,BD Bernardina,FM Santorelli,N Rizzuto,A Simonati,E Santorum,A Tessa,A Polo,F Simonetti,BD Bernardina,FM Santorelli,N Rizzuto,

For similar proteins: transcription factors research abstracts see: proteins: transcription factors research

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A CLN2 gene nonsense mutation is associated with severe caudate atrophy and dystonia in LINCL. Journal Published:

PUBLICATION TYPE: Research Support, Non-U.S. Gov

Journal: Neuropediatrics

VOLUME: 31

Page Numbers: 199-201

Journal Abbreviation: Neuropediatrics

ISSN: 0174-304X

DAY: 16

MONTH: Aug

YEAR: 2000

A CLN2 gene nonsense mutation is associated with severe caudate atrophy and dystonia in LINCL. Information

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LANGUAGE: eng

NlmUniqueID: 8101187

A CLN2 gene nonsense mutation is associated with severe caudate atrophy and dystonia in LINCL. Keywords Mesh Terms:

KEYWORDS: Transcription Factors

MESH TERMS: genetics

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Substance Name: Transcription Factors

Registry Number: 0

Grant and Affiliation Information for A CLN2 gene nonsense mutation is associated with severe caudate atrophy and dystonia in LINCL.

AFFILIATION: Department of Neurological Sciences, University of Verona, Italy. asimon@borgoroma.univr.it

Country: GERMANY

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MEDLINETA: Neuropediatrics

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