Category archives: Neurodegenerative
Developmental trajectory and stages of Rett syndrome.
Rett syndrome, a neurodevelopmental disorder linked to the X chromosome (MECP2 gene), typically progresses through four defined clinical stages that mark its developmental trajectory:
Developmental trajectory of MLD (metachromatic leukodystrophy).
Metachromatic Leukodystrophy (MLD): Developmental Trajectories Metachromatic leukodystrophy is an autosomal recessive inherited lysosomal storage disease characterized by deficiency of the enzyme arylsulfatase A (ARSA), causing the accumulation of sulfatides and progressive demyelination of the central and peripheral nervous system. Clinical Forms and Late Childhood Trajectory (typical): It manifests between the first…
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CLN development trajectories.
Neuronal Ceroid Lipofuscinosis (CLN): Developmental Trajectories Ceroid neuronal lipofuscinosis (CLN), commonly called Batten disease, group together a set of rare lysosomal-based neurodegenerative disorders characterized by the intralysosomal accumulation of fluorescent ceroid lipofuscin material. Common Path of Symptoms Progressive and rapid loss of visual acuity leading to blindness (to...
Differential development trajectories of MPs.
Genetic dystonias with "curative" treatment.
Diagnostic criteria for neonatal hypoxic-ischemic encephalopathy.
PIND (progressive intellectual and neurological deterioration).
Childhood dementia is a classic term in pediatric neurology, which has tried to become more operative through the concept of PIND (progressive intellectual and neurological deterioration), which seeks to encompass all neurodegenerative syndromes of childhood. This concept includes: There are targeted screening tests...
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