Focal cervical poliopathy causing juvenile muscular atrophy of distal upper extremity: a pathological study.

Hirayama, Keizo; Tomonaga, Masanori; Kitano, Kentaro; Yamada, Tetsuo; Kojima, Satoshi; Arai, Kimihito

doi:10.1136/jnnp.50.3.285

Cited by 218 publications

(153 citation statements)

References 22 publications

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“…Losses of not only large but also small neurons, a weak gliosis, and central necrosis in the anterior horns were quite unlikely in degenerative motor neuron disease. Weconcluded that those changes are ischemic as reported preliminarily in 1985 (19) and published in 1987 (20). Araki et al (21) from Japan reported the second autopsy case.…”

Section: Neuropathologymentioning

confidence: 99%

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Juvenile Muscular Atrophy of Distal Upper Extremity (Hirayama Disease).

2000

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This disease is characterized by initially progressive muscular weakness and wasting of the distal upper limb(s) in young people predominantly in men, followed by a spontaneous arrest within several years. This disease has been thought to be separate from motor neuron diseases, yet some authors still consider the illness a variant of motor neuron disease. However, the pathological evidence of ischemic changes in the lower cervical anterior horn should facilitate differentiation of the disorder from degenerative motor neuron disease. Recent radiological investigations proved compressive flattening of the lower cervical cord due to forward displacement of the cervical dural sac and spinal cord induced by neck flexion. These findings suggest that sustained or repeated neck flexion may cause ischemic changes in the cervical anterior horn. Application of a cervical collar to minimize neck flexion prevents progressive muscular weaknessin an early stage of the disease.

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Section: Neuropathologymentioning

confidence: 99%

“…The first autopsy case was obtained in 1982 (19,20), when a quarter of century had passed since the first clinical case report. The patient was a manwhosuffered from lung cancer for 3 months and died at the age of 38.…”

Section: Neuropathologymentioning

confidence: 99%

Juvenile Muscular Atrophy of Distal Upper Extremity (Hirayama Disease).

2000

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“…Later, abnormal findings were noted on neuroradiological examination of the cervical spine [49] In light of autopsy findings of two patients with this disease, no pathological changes were observed in the cervical white matter, but a decrease in and necrosis of the anterior horn cells were noted [1,15]. Hirayama et al hypothesized that the pathogenic mechanism of this disease is ischemic necrosis of the anterior horn of the spinal cord accompanied by an anterior shift of the posterior surface of the lower cervical dura in the neck-flexed position [15]. Repeated neck flexion causes ischemia of the spinal cord and impairs the anterior horn cells most vulnerable to ischemia.…”

Section: Pathophysiology Of Cfmmentioning

confidence: 99%

Pathophysiology and treatment for cervical flexion myelopathy

et al. 2002

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IntroductionReid [43,44] and Breig and colleagues [3,4], on the basis of a cadaveric study, hypothesized that spinal cord compression by the vertebral bodies and intervertebral discs during neck flexion caused cervical myelopathy. Later, the pincer mechanism of the cervical spine became emphasised, and neck extension was thought to be the predominant pathology of cervical myelopathy [41]. HowAbstract Previous studies have suggested that spinal cord compression by the vertebral bodies and intervertebral discs during neck flexion cause cervical flexion myelopathy (CFM). However, the exact pathophysiology of CFM is still unknown, and surgical treatment for CFM remains controversial. We examined retrospectively patients with CFM based on studies of the clinical features, neuroradiological findings, and neurophysiological assessments. The objectives of this paper are to investigate the pathophysiology of CFM, and to examine an optimal surgical treatment. Twenty-three patients (20 male, three female) with age of onset ranging from 11 to 23 years (mean 15.7 years) were examined for the study. All patients were inspected by magnetic resonance imaging (MRI), myelogram, or computed tomographic myelogram (CTM) of the cervical spine. In eight patients, dynamic motor evoked potentials (MEP) studies were performed. Five patients underwent surgical treatment; two patients had cervical duraplasty with laminoplasty, two patients had musculotendinous transfer, one patient had both of these procedures, and the remaining 18 patients were treated conservatively. Amyotrophy of the hand intrinsic and flexor muscle group of the forearm except the brachioradial muscle was observed hemilaterally in 20 patients and bilaterally in three patients. In three patients, T1-weighted MRI with neck flexion showed linear high intensity regions in the epidural space. In all patients, axial MRI/CTM demonstrated flattening of the spinal cord with the posterior surface of the dura mater shifting anteriorly. The amplitude of MEPs decreased after cervical flexion in two patients with progressive muscular atrophy. In three patients, dysesthesia of the upper extremities disappeared following cervical duraplasty. Musculotendinous transfer for three patients significantly improved the performance of their upper extremity. The findings of this study suggest that degenerative changes of the dura mater may be a characteristic pathology of CFM. Cervical duraplasty with laminoplasty is effective for cases at an early stage, and musculotendinous transfer should be selected in patients at a late stage.

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“…Monomelic amyotrophy (MA; MIM 602440), also known as Hirayama disease, is a rare motor neuron disease mainly afflicting young males that is characterized by weakness and wasting of the muscles confined to the hand and forearm, without sensory or pyramidal tract involvement (Hirayama et al, 1987). It follows a non-progressive course after a few years of unilateral or bilateral progression (Misra et al, 2006).…”

Section: Introductionmentioning

confidence: 99%

Association of the X-linked Androgen Receptor Leu57Gln Polymorphism with Monomelic Amyotrophy

Park¹,

Lim²,

Kim³

et al. 2011

Genomics & Informatics

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Monomelic amyotrophy (MA), also known as Hirayama disease, occurs mainly in young men and manifests as weakness and wasting of the muscles of the distal upper limbs. Here, we sought to identify a genetic basis for MA. Given the predominance of MA in males, we focused on candidate neurological disease genes located on the X chromosome, selecting two X-linked candidate genes, androgen receptor (AR ) and ubiquitin-like modifier activating enzyme 1 (UBA1 ). Screening for genetic variants using patients' genomic DNA revealed three known genetic variants in the coding region of the AR gene: one nonsynonymous single-nucleotide polymorphism (SNP; rs78686797) encoding Leu57Gln, and two variants of polymorphic trinucleotide repeat segments that encode polyglutamine (CAG repeat; rs5902610) and polyglycine (GGC repeat; rs3138869) tracts. Notably, the Leu57Gln polymorphism was found in two patients with MA from 24 MA patients, whereas no variants were found in 142 healthy male controls. However, the numbers of CAG and GGC repeats in the AR gene were within the normal range. These data suggest that the Leu57Gln polymorphism encoded by the X-linked AR gene may contribute to the development of MA.

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Focal cervical poliopathy causing juvenile muscular atrophy of distal upper extremity: a pathological study.

Cited by 218 publications

References 22 publications

Juvenile Muscular Atrophy of Distal Upper Extremity (Hirayama Disease).

Juvenile Muscular Atrophy of Distal Upper Extremity (Hirayama Disease).

Pathophysiology and treatment for cervical flexion myelopathy

Association of the X-linked Androgen Receptor Leu57Gln Polymorphism with Monomelic Amyotrophy

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