Congenital pontocerebellar atrophy and telencephalic defects in three siblings: a new subtype
2007
We report three siblings, two of whom had a neuropathological study, with a new subtype of congenital ponto-cerebellar atrophy (PCH). In addition to the brain stem and cerebellar anomalies common to all types of this
heterogeneous condition, there were unique developmental defects in the telencephalon: absence of the
claustrum, diffuse cortical changes particularly in the
insulaand an extremely small brain. In an attempt to shed some light on the pathogenesis of this
developmental disorder, we have analyzed the pattern of brain stem and cerebellar abnormalities in ours and in previously reported patients with PCH, to possibly distinguish primary from secondary effects of the mutant gene upon the cerebellar circuitry, and compared our patients’ cerebellar and cerebral defects to those of some other human brain malformations and to mutant mice with both
hindbrainand forebrain anomalies. Although this and previous observations of familial congenital PCH with apparent
autosomal recessive inheritancespawn the endeavor to compare and classify patients into subgroups, any final classification must await identification and molecular characterization of the causal gene(s).
Keywords:
-
Correction
-
Source
-
Cite
-
Save
67
References
6
Citations
NaN
KQI