Spinocerebellar degenerations: An update

Perlman, Susan

doi:10.1007/s11910-002-0009-2

Cited by 2 publications

(1 citation statement)

References 88 publications

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“…Disorders with progressive degeneration of the cerebellum with or without involvement of the spinal cord or the peripheral nerves are collectively known as the neurodegenerative ataxias (NDA). 1 Common presenting features of NDA include uncoordinated gait, limb, speech, and eye movements, with variable degrees of pyramidal and extrapyramidal features. Neurodegenerative ataxias are distinct from non-progressive congenital cerebellar ataxia, or acquired cerebellar disorders due to infection, demyelinating disease, stroke, neoplasm, toxins, or malabsorption.…”

Section: Differential Diagnosismentioning

confidence: 99%

A 10-Year-Old Girl with Progressive Generalized Weakness

Mah

Sarnat²

2006

Can. j. neurol. sci.

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Case PresentationDr. Harvey Sarnat: A.Y. was a 10-year-old Mexican girl who presented with a 7-year history of progressive weakness. She was the full-term product of an uncomplicated pregnancy and delivery, weighing 2850 grams at birth. Early developmental milestones were achieved at the expected rate until age three, when frequent falling was noted. Progressive weakness of her legs ensued, and at age nine years, A.Y. lost the ability to walk beyond a few steps, and shortly thereafter she could not stand without support. She had no seizures, visual disturbance, dysphagia, or incontinence. Previously an excellent student, her academic performance in school had deteriorated over the past year. She was not on any medications. Family history was negative for any known neurological or neuromuscular diseases. A.Y. was an only child. Both parents were alive and well; there was no history of consanguinity.

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Section: Differential Diagnosismentioning

confidence: 99%

A 10-Year-Old Girl with Progressive Generalized Weakness

Mah

Sarnat²

2006

Can. j. neurol. sci.

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Mitochondrial Dysfunction in Friedreich’s Ataxia

2001

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Friedreich ataxia (FRDA) is an autosomal recessive degenerative disorder caused in the vast majority of cases by a GAA triplet expansion in the FRDA gene on chromosome 9q13. The FRDA gene product, frataxin, is a widely expressed mitochondrial protein which is severely reduced in FRDA patients. Loss of the homologue of frataxin in yeast is associated with mitochondrial iron overload, increased sensitivity to oxidative stress and profound deficit of oxidative phosphorylation. The demonstration that the human pathology of FRDA is also characterised by mitochondrial iron accumulation, deficit of respiratory chain complex activities and in vivo deficit of tissue energy metabolism establishes FRDA as a ‘new’ nuclear encoded mitochondrial disease.

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Spinocerebellar degenerations: An update

Cited by 2 publications

References 88 publications

A 10-Year-Old Girl with Progressive Generalized Weakness

A 10-Year-Old Girl with Progressive Generalized Weakness

Mitochondrial Dysfunction in Friedreich’s Ataxia

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