GNE myopathy: A prospective natural history study of disease progression

Mori‐Yoshimura, Madoka; Oya, Yasushi; Yajima, Hiroyuki; Yonemoto, Naohiro; Kobayashi, Yôko; Hayashi, Yukiko; Noguchi, S.; Nishino, Ichizo; Murata, Miho

doi:10.1016/j.nmd.2014.02.008

Cited by 40 publications

(44 citation statements)

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“…Patients with GNE myopathy typically present in early adulthood, between 20 and 40 years of age [9,10] with manifestations of anterior tibialis weakness, such as tripping, gait disturbance, inability to lift toes, or foot drop [9][10][11], although some patients present to medical attention at later stages of the disease.…”

Section: Clinical Manifestations Of Gne Myopathymentioning

confidence: 99%

“…The upper extremities are affected 5-10 years after the onset of symptoms [9,11] and do not necessarily follow the distal to proximal progression seen in the lower extremities. In advanced stages of the disease, neck muscles can also be affected [10]. Ultimately, disease progression may result in complete loss of skeletal muscle function and dependence on caregivers [11,12].…”

Section: Clinical Manifestations Of Gne Myopathymentioning

confidence: 99%

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GNE Myopathy: Etiology, Diagnosis, and Therapeutic Challenges

2018

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GNE myopathy, previously known as hereditary inclusion body myopathy (HIBM), or Nonaka myopathy, is a rare autosomal recessive muscle disease characterized by progressive skeletal muscle atrophy. It has an estimated prevalence of 1 to 9:1,000,000. GNE myopathy is caused by mutations in the GNE gene which encodes the rate-limiting enzyme of sialic acid biosynthesis. The pathophysiology of the disease is not entirely understood, but hyposialylation of muscle glycans is thought to play an essential role. The typical presentation is bilateral foot drop caused by weakness of the anterior tibialis muscles with onset in early adulthood. The disease slowly progresses over the next decades to involve skeletal muscles throughout the body, with relative sparing of the quadriceps until late stages of the disease. The diagnosis of GNE myopathy should be considered in young adults presenting with bilateral foot drop. Histopathologic findings on muscle biopsies include fiber size variation, atrophic fibers, lack of inflammation, and the characteristic Brimmed^vacuoles on modified Gomori trichome staining. The diagnosis is confirmed by the presence of pathogenic (mostly missense) mutations in both alleles of the GNE gene. Although there is no approved therapy for this disease, preclinical and clinical studies of several potential therapies are underway, including substrate replacement and gene therapy-based strategies. However, developing therapies for GNE myopathy is complicated by several factors, including the rare incidence of disease, limited preclinical models, lack of reliable biomarkers, and slow disease progression.

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Section: Clinical Manifestations Of Gne Myopathymentioning

confidence: 99%

Section: Clinical Manifestations Of Gne Myopathymentioning

confidence: 99%

GNE Myopathy: Etiology, Diagnosis, and Therapeutic Challenges

2018

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“…GNE myopathy (also known as hereditary inclusion body myopathy, HIBM, or distal myopathy with rimmed vacuoles, DMRV) (Huizing et al, 2014) is a rare, progressive inherited neuromuscular disease with early adult onset (Mori-Yoshimura et al, 2014). The condition was only described as late as in 1981 in Japan (Nonaka et al, 1981) and 1984 in the Iranian-Jewish population (Argov and Yarom, 1984) due to the rarity of the disease; there are likely less than 2,000 patients affected in the developed world.…”

Section: Gne Myopathymentioning

confidence: 99%

The nutritional role of free sialic acid, a human milk monosaccharide, and its application as a functional food ingredient

Röhrig¹,

Choi

Baldwin

2016

Critical Reviews in Food Science and Nutrition

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N-Acetyl-d-neuraminic acid (NANA), more commonly known by its trivial name sialic acid, is an endogenous human and ubiquitous nutritional monosaccharide. As a bound sugar at the terminal positions of glycans NANA is known to play important roles in many biological events. The data that exist on the occurrence of the free monosaccharide in breast milk and nutrition, however, are less commonly discussed. In most foods of animal origin, sialic acid occurs as a mixture of NANA and N-glycolyl-d-neuraminic acid (NGNA), a hydroxylated derivative of NANA that is not found in humans. The dietary intake of NGNA has been identified as a risk factor for long-term adverse health effects. Therefore, we present summaries on the biochemistry, metabolism, bioavailability, and the data on NANA and NGNA levels that occur in diverse foods. Finally, we discuss the emerging data demonstrating that free NANA is linked to positive nutritional effects including pronounced antioxidative properties. These data and the extremely high safety profile of NANA justify dietary enrichment at levels that correspond to the dietary intake of NANA in infants through breast milk.

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“…It is caused by a mutation in the GNE gene (1). Patients in the late teen to early adult years typically present with gait disturbance and foot drop secondary to anterior tibialis muscle weakness (2). Over time, the proximal lower extremity muscle groups become affected, along with the intrinsic hand muscles.…”

Section: Implication For Patient Carementioning

confidence: 99%