scholarly journals A Gene for Autosomal Recessive Symmetrical Spastic Cerebral Palsy Maps to Chromosome 2q24-25

1999 ◽  
Vol 64 (2) ◽  
pp. 526-532 ◽  
Author(s):  
D.P. McHale ◽  
S. Mitchell ◽  
S. Bundey ◽  
L. Moynihan ◽  
D.A. Campbell ◽  
...  
Keyword(s):  
Cerebral Palsy ◽  
Autosomal Recessive ◽  
Spastic Cerebral Palsy

scholarly journals An autosomal recessive form of spastic cerebral palsy (CP) with microcephaly and mental retardation

2006 ◽  
Vol 140A (14) ◽  
pp. 1504-1510 ◽  
Author(s):  
Anna Rajab ◽  
Seung-Yun Yoo ◽  
Aiman Abdulgalil ◽  
Salem Kathiri ◽  
Riaz Ahmed ◽  
...  
Keyword(s):  
Cerebral Palsy ◽  
Mental Retardation ◽  
Autosomal Recessive ◽  
Spastic Cerebral Palsy ◽  
Autosomal Recessive Form ◽  
Recessive Form

scholarly journals Evidence that autosomal recessive spastic cerebral palsy-1 (CPSQ1) is caused by a missense variant in HPDL

2021 ◽  
Vol 3 (1) ◽  
Author(s):  
Neil V Morgan ◽  
Bryndis Yngvadottir ◽  
Mary O’Driscoll ◽  
Graeme R Clark ◽  
Diana Walsh ◽  
...  
Keyword(s):  
Cerebral Palsy ◽  
Neurological Disease ◽  
Autosomal Recessive ◽  
Genetic Diagnosis ◽  
Disease Status ◽  
Missense Variant ◽  
Spastic Cerebral Palsy ◽  
Single Family ◽  
Loss Of Function ◽  
Candidate Mutation

Abstract A subset of individuals diagnosed with cerebral palsy will have an underlying genetic diagnosis. Previously, a missense variant in GAD1 was described as a candidate mutation in a single family diagnosed with autosomal recessive spastic cerebral palsy-1 (CPSQ1; OMIM 603513). Following the ascertainment of a further branch of the CPSQ1 kindred, we found that the previously reported GAD1 variant did not segregate with the neurological disease phenotype in the recently ascertained branch of the kindred. Following genetic linkage studies to map autozygous regions and whole-exome sequencing, a missense variant (c.527 T > C; p. Leu176Pro, rs773333490) in the HPDL gene was detected and found to segregate with disease status in both branches of the kindred. HPDL encodes a 371-amino acid protein (4-Hydroxyphenylpyruvate Dioxygenase Like) that localizes to mitochondria but whose function is uncertain. Recently, biallelic loss of function variants and missense substitution-causing variants in HPDL were reported to cause a childhood onset progressive spastic movement disorder with a variable presentation. These findings suggest that HPDL-related neurological disease may mimic spastic cerebral palsy and that GAD1 should not be included in diagnostic gene panels for inherited cerebral palsy.

Muscle Contractures in Children with Spastic Cerebral Palsy

2015 ◽  
Vol 46 (S 01) ◽  
Author(s):  
J. Delgado ◽  
M. Arroyo ◽  
R. Pulido ◽  
S. Grunt
Keyword(s):  
Cerebral Palsy ◽  
Spastic Cerebral Palsy
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