Congenital Muscle Fiber-Type Disproportion in Krabbe's Leukodystrophy

Dehkharghani, F; Sarnat, Harvey B.; Brewster, Marge A.; Roth, Sanford I.

doi:10.1001/archneur.1981.00510090079010

Cited by 32 publications

(6 citation statements)

References 13 publications

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“…Other congenital myopathies, as well as other neuromuscular and central nervous system disorders, can also show relative type 1 fibre hypotrophy and must be ruled out in order to establish a diagnosis of CFTD (Clarke and North, 2003). A number of patients initially diagnosed with CFTD were later shown to have other, distinct neuromuscular disorders (Cavanagh et al, 1979;Martin et al, 1976;Dehkharghani et al, 1981;Glick et al, 1984). It has been proposed that, in order to avoid confusion, a diagnosis of CFTD should be reserved for those cases with no other histological changes but a disproportion in size of type 1 and type 2 muscle fibres (Jaffe et al, 1988).…”

Section: Discussionmentioning

confidence: 99%

Autosomal dominant congenital fibre type disproportion: a clinicopathological and imaging study of a large family

Sobrido¹,

Fernández²,

Fontoira³

et al. 2005

Brain

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Congenital fibre type disproportion (CFTD) is considered a non-progressive or slowly progressive muscle disease with relative smallness of type 1 fibres on pathological examination. Although generally benign, CFTD has a variable natural course and severe progression has been observed in some patients. The pathogenesis of the disorder is unknown and many authors consider CFTD a syndrome with multiple aetiologies rather than a separate clinical entity. A positive family history has been reported in about 40% of cases, but the inheritance pattern is not clear. Both autosomal recessive and dominant modes of inheritance have been suggested. The present paper describes a large, multigenerational kindred that has an inherited myopathy fulfilling the histological criteria of CFTD, with autosomal dominant transmission and high penetrance. The clinical picture, remarkably similar in all affected family members, started in early infancy with mild limb muscle weakness. There was slow progression of symptoms into adulthood, with moderate to severe, mainly proximal, muscle weakness without loss of ambulation. Muscle biopsy from two affected individuals demonstrated predominance of small type 1 muscle fibres without other significant findings. Nerve conduction studies were normal and needle electromyography showed a myopathic pattern. MRI examination performed on three patients from successive generations showed involvement of proximal limb and paraspinal muscles. The clinical and pathological homogeneity in the present family, together with the lack of additional histological abnormalities after decades of disease progression in two affected individuals, supports this being a distinct myopathy with fibre type disproportion. Whether the disease in this family can be regarded as a form of the congenital myopathy known as CFTD or rather a unique condition sharing histological features with CFTD needs further investigation. This is, to our knowledge, the largest kindred with muscle fibre type disproportion reported to date. Our data confirm autosomal dominant inheritance, and this is the first MRI document of this disorder.

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Section: Discussionmentioning

confidence: 99%

Autosomal dominant congenital fibre type disproportion: a clinicopathological and imaging study of a large family

Sobrido¹,

Fernández²,

Fontoira³

et al. 2005

Brain

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“…The atrophy of skeletal muscles in patients with KD is one of its major debilitating manifestations (Dehkharghani et al, 1981;Marjanovic et al, 1996), and demyelination of the PNS has been regarded as one of the mechanisms in muscle dysfunction (Duchen et al, 1980;Powell et al, 1983;Kondo et al, 1988;Tanaka et al, 1988). However, a growing body of evidence suggests that neuromuscular pathology in KD may involve PSYmediated direct abnormality and degeneration of neurons, axons, and neuromuscular junctions (Dolcetta et al, 2005;Castelvetri et al, 2011;Smith et al, 2014;Cantuti-Castelvetri et al, 2015).…”

Section: Neuropathy Axonopathy and Neuromuscular Dysfunctionsmentioning

confidence: 99%

Biochemical, cell biological, pathological, and therapeutic aspects ofKrabbe's disease

Won

Singh

2016

J of Neuroscience Research

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Krabbe disease (KD; also called globoid cell leukodystrophy) is a genetic disorder involving demyelination of the central (CNS) and peripheral (PNS) nervous systems. The disease may be subdivided into three types; an infantile form which is most common and severe, a juvenile form, and a rare adult form. KD is an autosomal recessive disorder caused by a deficiency of galactocerebrosidase (GALC) activity in lysosomes leading to accumulation of galactoceramide and neurotoxic galactosylsphingosine (psychosine) in macrophages (globoid cells) as well as neural cells especially in oligodendrocytes and Schwann cells. This ultimately results in damage to myelin in both CNS and PNS with associated morbidity and mortality. Accumulation of psychosine, a lysolipid with detergent-like properties, over a threshold level could trigger membrane destabilization leading to cell lysis. Moreover, sub-threshold concentrations of psychosine trigger cell signaling pathways that induce oxidative stress, mitochondrial dysfunction, apoptosis, inflammation, endothelial/vascular dysfunctions, and neuronal and axonal damage. Since the proposed “psychosine hypothesis” considerable efforts have been made in search for effective therapy for lowering psychosine load using pharmacological, gene and stem cell approaches to attenuate psychosine-induced neurotoxicity. In this review, we focus on the recent advances and prospective research on understanding of disease mechanisms and therapeutic approaches for KD.

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“…An additional phylogenetic aspect of Krabbe's disease is the demonstration of congenital muscle fiber type disproportion (CMFTD) in at least some cases (Martin et al, 1976;Dehkharghani et al, 1981). CMFTD is not a characteristic finding of denervation atrophy of muscle.…”

Section: Krabbe's Leukodystrophymentioning

confidence: 99%

Hypothesis: Phylogenetic Diseases of the Nervous System

Sarnat

Netsky

1984

Can. j. neurol. sci.

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SUMMARYA few human diseases may be viewed from a phylogenetic perspective. Some metabolic or degenerative diseases selectively affect recently evolved or exclusively mammalian structures of the brain and spare the older structures. Examples include Krabbe’s leukodystrophy, olivopontocerebellar atrophy, Friedreich’s ataxia, Pick’s disease, and Leber’s optic atrophy. Some pathologic conditions in man are similar to normal anatomy in other species, although the mechanisms may differ. Congenital muscle fiber-type disproportion in rodents, Dandy-Walker cyst in birds, and agenesis of the corpus callosum in marsupials are representative of this category. Loss of basal dendritic spines from pyramidal cells in Pick’s disease is reminiscent of certain large neurons normally found in the cortex of reptiles. Changes in metabolism in the evolution of mammals in general and of man in particular may explain some aspects of’phylogenetic diseases’. Some potential examples are the shift from predominantly phospholipids to galactolipids in myelin composition as mammals evolved, and the greater toxicity of cyanide and other poisons of oxidative metabolism in mammals than in other vertebrates because of less reliance on anaerobic metabolism as an alternative energy source.

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Congenital Muscle Fiber-Type Disproportion in Krabbe's Leukodystrophy

Cited by 32 publications

References 13 publications

Autosomal dominant congenital fibre type disproportion: a clinicopathological and imaging study of a large family

Autosomal dominant congenital fibre type disproportion: a clinicopathological and imaging study of a large family

Biochemical, cell biological, pathological, and therapeutic aspects ofKrabbe's disease

Hypothesis: Phylogenetic Diseases of the Nervous System

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