Exact(1)
Recently, Kurtec et al.38 studied 23 brain dead patients with Tc99m Hexamethylpropylene amine oxime scintigraphy and found both cerebral and cerebellar perfusion, neither cerebral nor cerebellar perfusion, cerebral without cerebellar perfusion and cerebellar without cerebral perfusion.
Similar(59)
Brain MRI in 5 of 5 patients was notable for cerebellar atrophy without supratentorial involvement.
Chiari IV malformation is characterized by a severe form of cerebellar hypoplasia without herniation of cerebellar structures, but most infants do not survive.
The lesion displaces the VII and VIII cranial nerve, and produces imprint on the brain stem and adjacent right cerebellar hemisphere, without signs of infiltration.
Brain magnetic resonance imaging (MRI) with gadolinium showed a small posterior skull and a cerebellar hypoplasia, without dysplasia, and a straight sinus orientated vertically due to the vertical insertion of tentorium.
Cerebellar timing without Purkinje cell long-term depolarization has also been described by Welsh et al. (2005).
It follows that mutations at less critical residues might cause corpus callosum and cerebellar malformations without obvious LIS, as we now document in one patient.
We also unexpectedly found a TUBA1A mutation in one child with agenesis of the corpus callosum and cerebellar hypoplasia without LIS.
Cerebellar atrophy (without reported ataxia in life) was also noted in both hippocampal sclerosis post-mortem controls (Control 1/EP296, Control 2/EP038), and in one post-mortem control with no known neurological disease (Control 5).
Interestingly, heterozygous carriers of SPG7 truncating mutations can develop a late-onset cerebellar syndrome/atrophy without spasticity, suggesting a predisposition for late-onset neurodegenerative disorders of heterozygous SPG7 carriers, mimicking an autosomal dominant inheritance when children are carrying two causative mutations.
Wada, N. et al. Conditioned eyeblink learning is formed and stored without cerebellar granule cell transmission.
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