Spinal cord‐predominant neuropathology in an adult‐onset case of POLR3A ‐related spastic ataxia

Spinal cord injury (SCI) in youth presents with unique manifestations and complications as compared to adult-onset SCI. The primary care clinician must consider the physical, physiological, cognitive, and psychological changes transpiring during childhood and adolescence. Physical changes include increasing size, weight, and bladder volume. Physiologic considerations include decreasing heart rate and increasing blood pressure with age. Cognitive issues include communication, executive functioning, and self-management skills. Lastly, psychological processes involve emotional functioning and establishment of self-identify and autonomy in the context of life with SCI.

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Adult Onset of Tethered Spinal Cord Syndrome Due to Fibrous Diastematomyelia: Case Report

Neurosurgery ◽

10.1227/00006123-198505000-00019 ◽

1985 ◽

Vol 16 (5) ◽

pp. 681-685 ◽

Cited By ~ 13

Author(s):

Bahram Chehrazi ◽

Scott Haldeman

Keyword(s):

Spinal Cord ◽

Case Report ◽

Tethered Spinal Cord ◽

Rare Entity ◽

Adult Onset ◽

Diagnostic Difficulty ◽

Surgical Release

Abstract Adult onset of the symptoms of tethered spinal cord is a rare entity that is occasionally associated with diastematomyelia. Only one case of fibrous diastematomyelia in an adult has been reported. The fibrous nature of this disease may present a diagnostic difficulty. A 32-year-old man with the adult onset of impairment of sacral functions with lumbar fibrous diastematomyelia is reported. Surgical release of the spinal cord was followed by improvement of the patient's function.

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Adult-onset leukoencephalopathy with brain stem and spinal cord involvement in Chinese Han population: A case report and literature review

Neurology India ◽

10.4103/0028-3886.111123 ◽

2013 ◽

Vol 61 (2) ◽

pp. 161 ◽

Cited By ~ 5

Author(s):

Jia-Chun Feng ◽

Fu-Bo Cheng ◽

Ping-Ping Shen ◽

Hong-Wei Zhou ◽

Hong-Mei Meng ◽

...

Keyword(s):

Spinal Cord ◽

Case Report ◽

Literature Review ◽

Brain Stem ◽

Chinese Han Population ◽

Adult Onset ◽

Chinese Han ◽

Han Population ◽

Spinal Cord Involvement

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MR Imaging Characteristics and Neuropathology of the Spinal Cord in Adult-Onset Autosomal Dominant Leukodystrophy with Autonomic Symptoms

American Journal of Neuroradiology ◽

10.3174/ajnr.a1354 ◽

2008 ◽

Vol 30 (2) ◽

pp. 328-335 ◽

Cited By ~ 28

Author(s):

J. Sundblom ◽

A. Melberg ◽

H. Kalimo ◽

A. Smits ◽

R. Raininko

Keyword(s):

Spinal Cord ◽

Mr Imaging ◽

Autosomal Dominant ◽

Adult Onset ◽

Autonomic Symptoms ◽

Imaging Characteristics

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Novel GFAP mutation in patient with adult-onset Alexander disease presenting with spastic ataxia

Movement Disorders ◽

10.1002/mds.22556 ◽

2009 ◽

Vol 24 (9) ◽

pp. 1393-1395 ◽

Cited By ~ 8

Author(s):

Hiroyuki Kaneko ◽

Masaki Hirose ◽

Shinichi Katada ◽

Toshiaki Takahashi ◽

Satoshi Naruse ◽

...

Keyword(s):

Alexander Disease ◽

Adult Onset ◽

Spastic Ataxia

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A Rosenthal Fiber Encephalomyelopathy Resembling Alexander’s Disease in 3 Sheep

Veterinary Pathology ◽

10.1177/0300985810395783 ◽

2011 ◽

Vol 49 (2) ◽

pp. 248-254 ◽

Cited By ~ 7

Author(s):

A. E. Kessell ◽

J. W. Finnie ◽

J. Manavis ◽

G. D. Cheetham ◽

P. C. Blumbergs

Keyword(s):

Spinal Cord ◽

Glial Fibrillary Acidic Protein ◽

Brain Stem ◽

Clinical Presentation ◽

Rosenthal Fibers ◽

Adult Onset ◽

Histologic Finding ◽

Rosenthal Fiber ◽

Merino Sheep ◽

Alexander's Disease

We report an encephalomyelopathy in three 18-month-old Merino sheep with features of adult-onset Alexander’s disease (AD), a human primary astrocytic disorder. The signature histologic finding was the presence of numerous hypereosinophilic, intra-astrocytic inclusions (Rosenthal fibers), mainly in perivascular, subpial, and subependymal sites, especially in the caudal brain stem and spinal cord. Although AD usually results from mutations in the glial fibrillary acidic protein ( GFAP) gene, no such mutation was detected in these sheep. However, the annual clinical presentation of this disorder in a few sheep in the affected flock is suggestive of a familial pattern of occurrence.

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