A novel type of familial proximal axonal dystrophy: Three cases and a review of the axonal dystrophies

Carpenter, Stirling; Soares, Henrique; Brandão, Otília; Moura, Conceição Souto; Castro, Lígia; Rodrigues, Esmeralda; Cunha, Ana Luísa; Bartosch, Carla

doi:10.1016/j.ejpn.2011.08.010

Cited by 3 publications

(3 citation statements)

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“…The axonal swellings are consistent with a neuroaxonal dystrophy (NAD), which could cause the ataxia observed. NAD is characterized by localized swellings (spheroids) and axonal atrophy, but is a nonspecific finding and might occur as a progressive hereditary disease or develop secondary to insults such as vitamin E deficiency, hydrocarbon exposure, and as an age‐related change . Ultrastructural studies often show compartmentalization in axonal swellings with separation of neurofilaments and organelles, perhaps accounting for the variable staining pattern.…”

Section: Discussionmentioning

confidence: 99%

“…NAD is characterized by localized swellings (spheroids) and axonal atrophy, but is a nonspecific finding and might occur as a progressive hereditary disease or develop secondary to insults such as vitamin E deficiency, hydrocarbon exposure, and as an age-related change. 33 Ultrastructural studies often show compartmentalization in axonal swellings with separation of neurofilaments and organelles, perhaps accounting for the variable staining pattern. Fetal-onset and juvenileonset NADs, resembling human infantile NAD, occur in Papillons, Jack Russell terriers, Border Collies, Rottweilers, and a laboratory colony of crossbreed dogs.…”

Section: Discussionmentioning

confidence: 99%

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Degenerative Encephalopathy in Nova Scotia Duck Tolling Retrievers Presenting with a Rapid Eye Movement Sleep Behavior Disorder

Barker

Dawson²,

Rose

et al. 2016

Veterinary Internal Medicne

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BackgroundNeurodegenerative diseases are a heterogeneous group of disorders characterized by loss of neurons and are commonly associated with a genetic mutation.Hypothesis/ObjectivesTo characterize the clinical and histopathological features of a novel degenerative neurological disease affecting the brain of young adult Nova Scotia Duck Tolling Retrievers (NSDTRs).AnimalsNine, young adult, related NSDTRs were evaluated for neurological dysfunction and rapid eye movement sleep behavior disorder.MethodsCase series review.ResultsClinical signs of neurological dysfunction began between 2 months and 5 years of age and were progressive in nature. They were characterized by episodes of marked movements during sleep, increased anxiety, noise phobia, and gait abnormalities. Magnetic resonance imaging documented symmetrical, progressively increasing, T2‐weighted image intensity, predominantly within the caudate nuclei, consistent with necrosis secondary to gray matter degeneration. Abnormalities were not detected on clinicopathological analysis of blood and cerebrospinal fluid, infectious disease screening or urine metabolite screening in most cases. Postmortem examination of brain tissue identified symmetrical malacia of the caudate nuclei and axonal dystrophy within the brainstem and spinal cord. Genealogical analysis supports an autosomal recessive mode of inheritance.Conclusions and Clinical ImportanceA degenerative encephalopathy was identified in young adult NSDTRs consistent with a hereditary disease. The prognosis is guarded due to the progressive nature of the disease, which is minimally responsive to empirical treatment.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Degenerative Encephalopathy in Nova Scotia Duck Tolling Retrievers Presenting with a Rapid Eye Movement Sleep Behavior Disorder

Barker

Dawson²,

Rose

et al. 2016

Veterinary Internal Medicne

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“…Axonal dystrophy is a known age-related spontaneous finding in the nervous system, especially brain, and has been reported in many animal species and humans. [1][2][3][4][13][14][15][16][17][18][19][20] Increased AD numbers have been seen in several breeds of dogs due to autosomal mutations leading to progressive degeneration of central and/or peripheral neurons [21][22][23][24][25][26][27][28][29][30][31][32][33][34][35][36][37] ; vitamin E deficiency, 4,38,39 presumably leading to increased oxidative stress 39 ; or exposure to toxicants that cause cytoskeletal cross-linking among other mechanisms of toxicity. [40][41][42][43][44][45][46][47][48][49] Axonal dystrophy also has been described in dogs with chronic wasting diseases (eg, filariasis, tumor-related cachexia).…”

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confidence: 99%

Spontaneous Axonal Dystrophy in the Brain and Spinal Cord in Naïve Beagle Dogs

et al. 2020

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Axonal dystrophy (AD) is a common age-related neurohistological finding in vertebrates that can be congenital or induced by xenobiotics, vitamin E deficiency, or trauma/compression. To understand the incidence and location of AD as a background finding in Beagle dogs used in routine toxicity studies, we examined central nervous system (CNS) and selected peripheral nervous system (PNS) tissues in twenty 18- to 24-month-old and ten 4- to 5-year-old control males and females. Both sexes were equally affected. The cuneate, gracile, and cochlear nuclei and the cerebellar white matter (rostral vermis) were the most common locations for AD. Incidence of AD increased with age in the cuneate nucleus, cerebellar white matter (rostral vermis), trigeminal nuclei/tracts, and lumbar spinal cord. Axonal dystrophy in the CNS was not accompanied by neuronal degeneration/necrosis, nerve fiber degeneration, and/or glial reaction. Axonal dystrophy was not observed in the PNS (sciatic nerve, vagus nerve branches, or gastrointestinal mural autonomic plexuses).

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Roma (Gypsies): Genetic Studies

Morar¹,

Azmanov²,

Kalaydjieva³

2013

Encyclopedia of Life Sciences

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The Roma, also known as Gypsies, are a transnational founder population, resembling a mosaic of socially and genetically divergent groups. Common origins from a small group of related founders result in sharing of maternal and paternal lineages and of ancient disease‐causing mutations across endogamous Romani groups in different countries. Genetic differentiation between groups, with an impact on genetic epidemiology, is the product of bottleneck events, random genetic drift and differential admixture and correlates with the migrational history of the Roma in Europe. Genetic studies are concordant with linguistic data, which provide support for the Indian origins of the Gypsies and suggest a single founding population that originated in north/northwestern India. Key Concepts: The Roma/Gypsies are a European population of Asian descent (most likely from the north‐western part of the Indian subcontinent), with origins documented by the presence of Indian maternal, paternal and autosomal lineages in parallel with admixture from autochthonous Europeans. The genetic history of the Roma is a string of bottleneck events starting with the founding of the proto‐Roma by a small group of Asian ancestors and followed by more recent population fissions reflecting the early migrations within Europe and the splits into multiple endogamous groups. The current genetic profile of the Roma has been shaped by founder effects, genetic drift and differential admixture. The social organisation, similar to the jatis of India, with limited gene flow between Romani groups, has resulted in marked genetic substructure. Autosomal recessive disorders occur at relatively high frequency and are usually characterised by limited mutational heterogeneity. They include disorders caused by mutations ‘imported’ from surrounding populations, which may reach high frequencies due to founder effect and drift as well as ‘private’ population‐specific mutations leading to novel rare disorders. The socially defined Romani group is the basic unit and starting point for medical genetic research due to limited diversity and common sharing of founder disease‐causing mutations between apparently unrelated families.

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A novel type of familial proximal axonal dystrophy: Three cases and a review of the axonal dystrophies

Cited by 3 publications

References 42 publications

Degenerative Encephalopathy in Nova Scotia Duck Tolling Retrievers Presenting with a Rapid Eye Movement Sleep Behavior Disorder

Degenerative Encephalopathy in Nova Scotia Duck Tolling Retrievers Presenting with a Rapid Eye Movement Sleep Behavior Disorder

Spontaneous Axonal Dystrophy in the Brain and Spinal Cord in Naïve Beagle Dogs

Roma (Gypsies): Genetic Studies

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