What’s New in June for Neurology features:

– Metabolic Disorders

– Ataxias

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Mitochondrial a-oxidation and carnitine cycle

 

Metabolic Disorders

LANCE RODAN, MD, FRCP(C)

Division of Genetics and Genomics, Department of Medicine, Pediatrics, Children’s Hospital Boston, Boston, MA

 

Aminoacidopathies are inborn errors in the catabolism or biosynthesis of amino acids. Disease results from the accumulation of toxic intermediates and/or deficiency of end substrate. Defects associated with essential amino acid catabolism can be effectively managed through selective dietary amino acid restriction. The clinical features of the aminoacidopathies are highly varied, but all can have neurologic manifestations. Common neurologic symptoms include developmental delay, epilepsy, and acute encephalopathy.

 


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Brain T1-weighted magnetic resonance image, sagittal view, showing cerebellar atrophy in a patient with spinocerebellar ataxia type 10.

 

Ataxias

HÉLIO A.G. TEIVE, MD, PhD
Internal Medicine Department, Neurology Service, Ataxia Unit, Universidade Federal do Paraná, Paraná, Brazil
ORLANDO G.P. BARSOTTINI, MD, PhD
Department of Neurology and Neurosurgery, Division of General Neurology and Ataxia Unit, Universidade Federal de São Paulo, São Paulo, Brazil

 

Spinocerebellar ataxias (sCAs) are one of the primary cerebellar ataxias. A panel of experts in sCAs recently published an interesting study about the pathologic mechanisms underlying neurodegeneration in sCAs. The authors discussed several molecular mechanisms that can modulate neurodegeneration in sCAs, such as transcriptional dysregulation, protein aggregation, autophagy, ion channels, the role of mitochondria, and RNA toxicity. This new field of research could help therapeutic strategies at early stages of the sCAs.

 

 


 

As seen in Scientific AmericanTM Neurology, teaching principles and practice in Neurology.