Spinocerebellar degenerations. Medical search. Frequent questions

Autosomal dominant ataxias include the spinocerebellar ataxias and episodic ataxias. (bcm.edu)
Spinocerebellar ataxias (SCA) represent the most common form of chronic progressive ataxia in adults. (bcm.edu)
Has been used for the treatment of Friedreich's ataxia and other hereditary ataxias † [off-label] (spinocerebellar degenerations) (designated an orphan drug by FDA for these uses). (drugs.com)
Spinocerebellar ataxias are a group of neurodegenerative diseases characterized by the degeneration of Purkinje cells, a major class of neurons in the cerebellum. (medicalxpress.com)
The autosomal dominant spinocerebellar ataxias (SCAs) are a group of neurodegenerative diseases, clinically and genetically heterogeneous, characterized by degeneration of spinocerebellar pathways with variable involvement of other neural systems. (koreamed.org)
This disorder is classified as one of the SPINOCEREBELLAR ATAXIAS (Type 3) and has been associated with a mutation of the MJD1 gene on chromosome 14. (uchicago.edu)
Spinocerebellar ataxias in the Netherlands: prevalence and age at onset variance analysis. (csnn.eu)
5. Duenas AM, Goold R, Giunti P. Molecular pathogenesis of spinocerebellar ataxias. (csnn.eu)
Spinocerebellar ataxias: an update. (csnn.eu)
The wide spectrum of spinocerebellar ataxias (SCAs). (csnn.eu)
The autosomal dominant cerebellar degenerative disorders are generally referred to as 'spinocerebellar ataxias,' (SCAs) even though 'spinocerebellar' is a hybrid term, referring to both clinical signs and neuroanatomical regions (Margolis, 2003). (beds.ac.uk)
Neuropathologists have defined SCAs as cerebellar ataxias with variable involvement of the brainstem and spinal cord, and the clinical features of the disorders are caused by degeneration of the cerebellum and its afferent and efferent connections, which involve the brainstem and spinal cord (Schols et al. (beds.ac.uk)

Spinocerebellar ataxia type 7 (SCA7) is one such disease in which nerves in different parts of the brain, including the eye, degenerate, which leads to blindness and difficulty walking, speaking, and balancing. (lifeboat.com)
Spinocerebellar Ataxia Type 3 (SCA3) is a rare autosomal dominative disorder in which one of the neurodegenerative disorders is caused by a CAG repeat expansion on chromosome 14q32.1. (koreamed.org)
Spinocerebellar ataxia type 35 (SCA35) is a rare, autosomal dominant neurodegenerative disorder associated with mutations in TGM6 gene that encode the protein transglutaminase 6 (TG6). (ataxia.org)
Despite undeniable progresses in the knowledge concerning the molecular pathology of Machado- Joseph disease (MJD)/Spinocerebellar ataxia type 3 (SCA3), therapeutic compounds remain to be discovered and validated. (ataxia.org)
Spinocerebellar ataxia type 1 (SCA1) is characterized by progressive cerebellar ataxia, dysarthria, and eventual deterioration of bulbar functions. (beds.ac.uk)
In a mouse model of spinocerebellar ataxia type 1 (SCA1), mice carrying mutant Pumilio1 genes develop progressive motor deficits and cerebellar degeneration. (bcm.edu)

Infantile onset progressive cerebellar atrophy and anterior horn cell degeneration--a late onset variant of PCH-1? (nih.gov)
The term olivopontocerebellar atrophy is used when the disorder starts later in life and the process is a primary degeneration of cerebellar neurons. (nih.gov)
However, anterior horn cell degeneration has also been described in cases with later onset pontocerebellar atrophy and recently the spectrum has even been further extended to include the association of anterior horn cell degeneration and cerebellar atrophy without pontine involvement. (nih.gov)

Cerebellar degeneration can result in disorders in fine movement, posture, and motor learning in humans, due to a disturbance of the vestibular system. (wikipedia.org)
Spinocerebellar ataxia (SCA) comprises a family of autosomal dominant inherited disorders that result from progressive degeneration of the cerebellum and its associated systems. (alliedacademies.org)

Cerebellar degeneration is a condition in which cerebellar cells, otherwise known as neurons, become damaged and progressively weaken in the cerebellum. (wikipedia.org)
As the cerebellum contributes to the coordination and regulation of motor activities, as well as controlling equilibrium of the human body, any degeneration to this part of the organ can be life-threatening. (wikipedia.org)
Patients with cerebellar degeneration experience a progressive loss of nerve cells (Purkinje cells) throughout the cerebellum. (wikipedia.org)
More specifically, the neurological diseases that can cause cerebellar degeneration include: Spinocerebellar ataxia (SCA), which refers to a group of conditions caused by mutations in the genes of a human, and are characterised by degenerative changes to many parts of the central nervous system, inclusive of the cerebellum, brain stem, and spinal cord. (wikipedia.org)
We describe two siblings from a consanguineous Moslem Arabic family who presented with progressive degeneration of both the cerebellum and the anterior horn cells. (nih.gov)
Damage or degeneration in the back part of the brain called the cerebellum results in ataxia. (bcm.edu)
They result from the degeneration of pathways between the spinal cord and cerebellum. (bcm.edu)

Familial degeneration of the basal ganglia with acanthocytosis: a clinical, neuropathological, and neurochemical study. (medscape.com)
We hypothesize that degeneration of subcortical regions, including the basal ganglia, is associated with damage of white matter tracts linking these affected regions. (frontiersin.org)
Degeneration of the basal ganglia is a consistent feature of this disorder. (medscape.com)

Friedreich's Ataxia is an inherited disorder that leads to spinocerebellar degeneration due to an autosomal recessive mutation in the frataxin gene. (orthobullets.com)

Cerebellar degeneration can be attributed to a plethora of hereditary and non-hereditary conditions. (wikipedia.org)
Kjellin syndrome is characterized by retinal degeneration, autosomal recessive hereditary spastic paraplegia, and thin corpus callosum initially associated with spastic paraplegia 15 (SPG15) but more often occurring in individuals with SPG11. (nih.gov)

Retinal degeneration may be present. (medscape.com)
The following case report presents a case of a 48 years old male patient with slow progression of typical signs of SCA7, except for retinal degeneration. (csnn.eu)
Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromosome 3p. (csnn.eu)
19. Holmberg M, Johansson J, Forsgren L, Heijbel J, Sandgren O, Holmgren G. Localization of autosomal dominant cerebellar ataxia associated with retinal degeneration and anticipation to chromosome 3p12-p21.1. (csnn.eu)
ADCA II was characterized by the cerebellar ataxia, associated neurologic features, and the additional findings of macular and retinal degeneration. (beds.ac.uk)

The main goal of our project is the development of a powerful genetic model to investigate pathogenesis of spinocerebellar ataxia with axonal neuropathy-1 (SCAN-1) disease. (ataxia.org)

An autosomal recessive disease, usually of childhood onset, characterized pathologically by degeneration of the spinocerebellar tracts, posterior columns, and to a lesser extent the corticospinal tracts. (icd9data.com)
Distal axonopathy" is a term recently introduced to describe those diseases which are expressed as symmetrical, distal, axonal degeneration occurring concurrently in the peripheral nervous system (PNS) and in selected tracts of the central nervous system (CNS). (cdc.gov)

Pontocerebellar hypoplasia type 1 is associated with spinal anterior horn cell degeneration, congenital contractures, microcephaly, polyhydramnion and respiratory insufficiency leading to early death. (nih.gov)
It is characterized by progressive degeneration of the nerve tissues of the spinal cord. (icd9data.com)
Spinocerebellar ataxia (SCA) is a progressive disorder caused by the degeneration of cells in the brain and spinal cord and can lead to symptoms such as uncoordinated movement and muscle wasting. (metro.us)
Russell JSR, Batten FE, Collier J. Subacute combined degeneration of the spinal cord. (medscape.com)

Acanthocytosis has also been associated with the rare hypobetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration (HARP) syndrome, a disease of childhood akin to Hallervorden-Spatz disease and a defect in the gene for pantothenate kinase. (medscape.com)
Reuters) -Biohaven Pharmaceutical said on Monday its experimental drug for patients with spinocerebellar ataxia, a genetic disease that affects the nervous system, failed to meet the main goal of a late-stage study. (metro.us)
The world started to notice the contribution of Indian researchers when stalwarts such as Prof. N. H. Wadia published seminal articles on Wilson's disease (with Prof. D. K. Dastur) and spinocerebellar degeneration. (movementdisorders.org)

In all these diseases, a mutant protein that misfolds causes the degeneration and death of neurons. (lifeboat.com)

paraneoplastic cerebellar degeneration, and alcoholic or nutritional cerebellar degeneration. (wikipedia.org)
Approximately 50% of all patients experience dementia as a result of paraneoplastic cerebellar degeneration. (wikipedia.org)
Subacute onset of ataxia is usually seen in paraneoplastic cerebellar degeneration. (bcm.edu)

Spinocerebellar ataxia 7 (SCA7) is a rare autosomal dominant neurodegenerative disorder caused by expansion of an unstable CAG triplet repeats encoding the polyglutamine chain in the corresponding protein, ataxin-7 on the 3rd chromosome. (csnn.eu)

These changes in diffusion can be attributed to potential axonal degeneration. (frontiersin.org)

After returning home to Pittsburgh in 1998 for support from her extended family, she was diagnosed with spinocerebellar degeneration, in which the connections between the brain and muscles slowly, and inexplicably, deteriorate. (upmc.com)
Two years later, she was diagnosed with spinocerebellar degeneration, in which the connections between the brain and muscles slowly and inexplicably deteriorate. (tgdaily.com)
Machado-Joseph State (MJD-III), often referred to as spinocerebellar ataxia kind of III, try a rare, inherited, ataxia (insufficient muscle control) affecting the fresh central nervous system and you will characterized by new slow degeneration from form of areas of the brain called the hindbrain. (sch.id)

15. Durr A, Brice A. Clinical and genetic aspects of spinocerebellar degeneration. (csnn.eu)

This presentation will summarize our clinical and pathological studies of the nervous system degeneration (distal dying-back axonopathy) in man and experimental animals produced by acrylamide monomer and certain hydrocarbon compounds (hexacarbons). (cdc.gov)

Besides cerebellar deterioration, SCA is accompanied by degeneration of other nervous system sites. (alliedacademies.org)

Spinocerebellar Degenerations" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (jefferson.edu)

Functional disability was assessed by the Spinocerebellar Degeneration Functional Score. (bvsalud.org)

More commonly, cerebellar degeneration can also be classified according to conditions that an individual may acquire during their lifetime, including infectious, metabolic, autoimmune, paraneoplastic, nutritional or toxic triggers. (wikipedia.org)

The phrases cerebellar degeneration and spinocerebellar degeneration are used to describe changes that have taken place in a person's nervous system (neither term constitutes a specific diagnosis). (nih.gov)
Cerebellar and spinocerebellar degeneration have many different causes. (nih.gov)
The prognosis for individuals with ataxia and cerebellar/spinocerebellar degeneration varies depending on its underlying cause. (nih.gov)
Consider participating in a clinical trial so clinicians and scientists can learn more about ataxia and cerebellar or spinocerebellar degeneration and related disorders. (nih.gov)
Cerebellar degeneration is a condition in which cerebellar cells, otherwise known as neurons, become damaged and progressively weaken in the cerebellum. (wikipedia.org)
paraneoplastic cerebellar degeneration, and alcoholic or nutritional cerebellar degeneration. (wikipedia.org)
Cerebellar degeneration can result in disorders in fine movement, posture, and motor learning in humans, due to a disturbance of the vestibular system. (wikipedia.org)
Cerebellar degeneration can be attributed to a plethora of hereditary and non-hereditary conditions. (wikipedia.org)
More commonly, cerebellar degeneration can also be classified according to conditions that an individual may acquire during their lifetime, including infectious, metabolic, autoimmune, paraneoplastic, nutritional or toxic triggers. (wikipedia.org)
Patients with cerebellar degeneration experience a progressive loss of nerve cells (Purkinje cells) throughout the cerebellum. (wikipedia.org)
Approximately 50% of all patients experience dementia as a result of paraneoplastic cerebellar degeneration. (wikipedia.org)
More specifically, the neurological diseases that can cause cerebellar degeneration include: Spinocerebellar ataxia (SCA), which refers to a group of conditions caused by mutations in the genes of a human, and are characterised by degenerative changes to many parts of the central nervous system, inclusive of the cerebellum, brain stem, and spinal cord. (wikipedia.org)
The classification scheme for autosomal dominant OPCA overlaps with that of autosomal dominant spinocerebellar atrophies (SCAs) and autosomal dominant cerebellar atrophies (ADCAs). (medscape.com)
15. Progressive cerebellar atrophy: hereditary ataxias and disorders with spinocerebellar degeneration. (nih.gov)
To determine the molecular basis for SCA7 cerebellar degeneration, we performed unbiased transcriptome profiling in SCA7 transgenic mice and have delineated a role for altered Ca++ regulation downstream of impaired sirtuin-1 function. (nih.gov)
This work has led us to uncover decreased nicotinamide adenine dinucleotide (NAD+) as the basis for sirtuin-1 dysfunction in SCA7 cerebellar degeneration, and is yielding additional therapeutic approaches for remedying SCA7 disease phenotypes in model mice and in neurons derived from SCA7 patient stem cells. (nih.gov)
In the past, the hereditary ataxias have been categorized into predominantly spinal, spinocerebellar, and pure cerebellar forms based on a "typical" clinical picture and age of onset of signs and symptoms. (nih.gov)
Examples of diseases addressed in this announcement include MJD, hereditary spinocerebellar ataxias (Friedreich's Syndrome), hereditary cerebellar ataxias, ataxia-telangiectasia, hereditary spastic paraplegia, Roussy-Levy and Marinesco-Sjogren syndrome, abetalipoproteinemia (Bassen-Kornzweig syndrome), Refsum's disease and dyssynergia cerebellaris myoclonica (Ramsay Hunt syndrome). (nih.gov)
The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, brain stem and spinal cord. (antibodies-online.com)
As a result, pathologically proven PSP patients exhibiting cerebellar ataxia have often been misdiagnosed with spinocerebellar degeneration, specifically multiple system atrophy with predominant cerebellar ataxia (MSA-C). However, more recently, it has been recognized that patients with PSP can present with truncal and limb ataxia as their initial symptom and/or main manifestation. (e-jmd.org)
Autosomal recessive spinocerebellar ataxia-12 is a neurologic disorder characterized by onset of generalized seizures in infancy, delayed psychomotor development with mental retardation, and cerebellar ataxia. (nih.gov)

Retinal degeneration may be present. (medscape.com)
An important feature of SCA7, that allows it to be distinguished from the 40+ other SCAs, is retinal degeneration. (nih.gov)
To determine the molecular and mechanistic basis of SCA7 disease pathogenesis, we developed a mouse model of SCA7 cone-rod dystrophy, and implicated transcriptional dysregulation in the retinal degeneration. (nih.gov)
We recently demonstrated that ASO delivery by intravitreal injection is an effective treatment for SCA7 retinal degeneration. (nih.gov)

We have demonstrated previously genetic heterogeneity within these disorders by excluding the disease locus from the documented spinocerebellar ataxia locus (SCA1) on chromosome 6p in a large Cuban founder population. (nih.gov)
Here, we focused on three different types of ataxias, spinocerebellar ataxias type (SCAs) 2, 3, and 6, belonging to the polyglutamine (polyQ) family of neurodegenerative disorders. (elifesciences.org)
Spinocerebellar ataxias (SCA) refer to a group of rare, genetic neurological disorders that cause loss of muscle control, coordination, and balance. (nih.gov)
RESEARCH OBJECTIVES The hereditary ataxias, in general, encompass a variety of degenerative disorders, interchangeably referred to as spinocerebellar degenerations, that are difficult to classify due to limited knowledge of etiologic factors, variability of clinical manifestations, and limited correlation between clinical signs and postmortem changes. (nih.gov)
The spinocerebellar ataxias are inherited neurodegenerative disorders affecting brain circuits involved in movement coordination. (grantome.com)
The original estimates of dietary folate and vitamin B12 requirements and recommended dietary allowances (RDAs) were based on the amount needed to avoid manifest deficiency disorders (megaloblastic anemia, with sub-acute combined degeneration of the cord in the case of vitamin B12 deficiency) and on levels observed in populations. (healthjade.net)

Distal axonopathy" is a term recently introduced to describe those diseases which are expressed as symmetrical, distal, axonal degeneration occurring concurrently in the peripheral nervous system (PNS) and in selected tracts of the central nervous system (CNS). (cdc.gov)

In this strong study, the investigators examine the therapeutic ability of endurance exercise to disease in Drosophila models of the spinocerebellar ataxias types (SCAs) 2, 3, and 6. (elifesciences.org)
The SCAs involve loss of structure and function (degeneration) of the cells of the hindbrain, which includes the cerebellum (the part that helps control muscle movement and balance), the brain stem and upper part of the spinal cord, and sometimes other parts of the nervous system. (nih.gov)

Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. (elsevierpure.com)

Dysphagia in spinocerebellar ataxias type 1, 2, 3 and 6. (neurotree.org)

Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. (nih.gov)
When Do Symptoms of Infantile-onset spinocerebellar ataxia Begin? (nih.gov)
Onset of system degenerations may span a lifetime but often begin in the first to second decade of life. (nih.gov)

Acanthocytosis has also been associated with the rare hypobetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration (HARP) syndrome, a disease of childhood akin to Hallervorden-Spatz disease and a defect in the gene for pantothenate kinase. (medscape.com)
Mutations of the gene are implicated in a rare disorder called spinocerebellar ataxia 2 that causes loss of balance and coordination. (nih.gov)

In addition, the variety of eye and head movements' deficits suggests that, although the main neural degeneration in AOA2 affects the cerebellum, this disease affects other structures. (ox.ac.uk)

SCA2 (also known as olivopontocerebellar atrophy) involves vision problems, eye muscle control, and degeneration of the retina (the light-sensing part of the eye). (nih.gov)

Recent studies of both the genetics and neuropathology of ALS have reinforced the understanding that while the syndrome of ALS by definition involves the motor system, wider frontotemporal degeneration may give rise to at least some degree of cognitive and behavioral dysfunction. (nih.gov)

It describes the degeneration of neurons in specific areas of the brain: the cerebellum, pons, and inferior olives. (medscape.com)
Motor symptoms occur as the result of degeneration of both upper and lower motor neurons. (nih.gov)

The location and extent of the degeneration determines the clinical picture, which by definition includes motor decline, and may include cognitive and/or behavioral symptoms as well. (nih.gov)

This presentation will summarize our clinical and pathological studies of the nervous system degeneration (distal dying-back axonopathy) in man and experimental animals produced by acrylamide monomer and certain hydrocarbon compounds (hexacarbons). (cdc.gov)

The term "spinocerebellar ataxia" refers to those ataxias that are inherited in an autosomal dominant manner. (nih.gov)

Scheuermann, a 55-year-old mother of two who became paralyzed in middle-age due to a rare neurological disorder known as spinocerebellar degeneration, became so adept at manipulating the arm developed by Johns Hopkins University Applied Physics Laboratory that her participation in the study was extended until October, when the electrode arrays were removed. (military.com)

Anatomy2

Diseases17

Chemicals and Drugs1

Phenomena and Processes1

Information Science1

Ataxias12

Ataxia type6

Atrophy3

Disorders2

Cerebellum7

Basal ganglia3

Friedreich's1

Hereditary2

Retinal5

Pathogenesis of spinocerebellar1

Tracts2

Spinal4

Disease3

Diseases1

Paraneoplastic cerebellar d3

SCA71

Axonal degeneration1

Brain3

Genetic1

Distal1

Nervous1

MeSH1

Functional1

Nutritional1

Cerebellar21

Retinal degeneration4

Disorders6

Diseases1

SCAs2

Amyotrophic Lateral S1

Ataxias type1

Onset3

Gene2

Disease1

SCA21

Genetics1

Neurons2

Symptoms1

Nervous system1

Refers1

Rare1