COL4A1-related disease: Raised creatine kinase and cerebral calcification as useful pointers

Davide Tonduti; Anna Pichiecchio; Roberta La Piana; John H. Livingston; Daniel A. Doherty; Anirban Majumdar; Susan Tomkins; Manuele Mine; Mauro Ceroni; Ivana Ricca; Umberto Balottin; Simona Orcesi

doi:10.1055/s-0032-1325116

COL4A1-related disease: Raised creatine kinase and cerebral calcification as useful pointers

Davide Tonduti^*, Anna Pichiecchio, Roberta La Piana, John H. Livingston, Daniel A. Doherty, Anirban Majumdar, Susan Tomkins, Manuele Mine, Mauro Ceroni, Ivana Ricca, Umberto Balottin, Simona Orcesi

^*Corresponding author for this work

Research output: Contribution to journal › Article (Academic Journal) › peer-review

21 Citations (Scopus)

Abstract

BackgroundMutations in COL4A1 are responsible for a spectrum of clinical phenotypes characterized by neurological, ocular, and renal involvement. Neurological features are the most prominent but as such are rather nonspecific. Case PresentationHere, we report three new cases that, like five patients we previously described, show the novel common finding of raised creatine kinase (CK) concentration. ConclusionRaised CK concentration, in addition to intracranial calcification, is to be considered another useful pointer to a final diagnosis of COL4A1-related disease.

Original language	English
Pages (from-to)	283-288
Number of pages	6
Journal	Neuropediatrics
Volume	43
Issue number	5
DOIs	https://doi.org/10.1055/s-0032-1325116
Publication status	Published - 2012

Keywords

cataract
cerebral calcification
COL4A1
creatine kinase

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@article{5ac9f7e3b6484c95bce0bd8be48ca310,

title = "COL4A1-related disease: Raised creatine kinase and cerebral calcification as useful pointers",

abstract = "BackgroundMutations in COL4A1 are responsible for a spectrum of clinical phenotypes characterized by neurological, ocular, and renal involvement. Neurological features are the most prominent but as such are rather nonspecific. Case PresentationHere, we report three new cases that, like five patients we previously described, show the novel common finding of raised creatine kinase (CK) concentration. ConclusionRaised CK concentration, in addition to intracranial calcification, is to be considered another useful pointer to a final diagnosis of COL4A1-related disease.",

keywords = "cataract, cerebral calcification, COL4A1, creatine kinase",

author = "Davide Tonduti and Anna Pichiecchio and {La Piana}, Roberta and Livingston, {John H.} and Doherty, {Daniel A.} and Anirban Majumdar and Susan Tomkins and Manuele Mine and Mauro Ceroni and Ivana Ricca and Umberto Balottin and Simona Orcesi",

year = "2012",

doi = "10.1055/s-0032-1325116",

language = "English",

volume = "43",

pages = "283--288",

journal = "Neuropediatrics",

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TY - JOUR

T1 - COL4A1-related disease

T2 - Raised creatine kinase and cerebral calcification as useful pointers

AU - Tonduti, Davide

AU - Pichiecchio, Anna

AU - La Piana, Roberta

AU - Livingston, John H.

AU - Doherty, Daniel A.

AU - Majumdar, Anirban

AU - Tomkins, Susan

AU - Mine, Manuele

AU - Ceroni, Mauro

AU - Ricca, Ivana

AU - Balottin, Umberto

AU - Orcesi, Simona

PY - 2012

Y1 - 2012

N2 - BackgroundMutations in COL4A1 are responsible for a spectrum of clinical phenotypes characterized by neurological, ocular, and renal involvement. Neurological features are the most prominent but as such are rather nonspecific. Case PresentationHere, we report three new cases that, like five patients we previously described, show the novel common finding of raised creatine kinase (CK) concentration. ConclusionRaised CK concentration, in addition to intracranial calcification, is to be considered another useful pointer to a final diagnosis of COL4A1-related disease.

AB - BackgroundMutations in COL4A1 are responsible for a spectrum of clinical phenotypes characterized by neurological, ocular, and renal involvement. Neurological features are the most prominent but as such are rather nonspecific. Case PresentationHere, we report three new cases that, like five patients we previously described, show the novel common finding of raised creatine kinase (CK) concentration. ConclusionRaised CK concentration, in addition to intracranial calcification, is to be considered another useful pointer to a final diagnosis of COL4A1-related disease.

KW - cataract

KW - cerebral calcification

KW - COL4A1

KW - creatine kinase

UR - http://www.scopus.com/inward/record.url?scp=84867575487&partnerID=8YFLogxK

U2 - 10.1055/s-0032-1325116

DO - 10.1055/s-0032-1325116

M3 - Article (Academic Journal)

C2 - 22932948

AN - SCOPUS:84867575487

SN - 0174-304X

VL - 43

SP - 283

EP - 288

JO - Neuropediatrics

JF - Neuropediatrics

IS - 5

ER -

COL4A1-related disease: Raised creatine kinase and cerebral calcification as useful pointers

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