Spinocerebellar ataxia

Spinocerebellar ataxia type 1, described as progressive cerebellar ataxia, a disorder that occurs when the cerebellum becomes inflamed or damaged, dysarthria (a disorder of articulation, such as stuttering or stammering), and eventual deterioration of bulbar functions (estimates of speech intelligibility and speaking rate). Ataxia, meaning in coordination. When the disease first starts showing up, individuals may experience: “slurred speech, difficulty with balance, and hypermetric saccades” (relating to eye movement) to name a few symptoms. As someone grows older the symptoms worsen. Those who are 60 or older and have Spinocerebellar ataxia type 1 develop “pure cerebellar phenotype” (cerebellar pertaining to the cerebellum, the part of the brain in the back of the head and phenotype pertaining to the characteristics of a person). (GeneReviews: Spinocerebellar Ataxia Type 1) About 1-2 people out of 100,000 have Spinocerebellar ataxia type 1, varying mostly on geographical location and ethnicity. If a parent has Spinocerebellar ataxia type 1, there is a 50% chance that their child will inherit the disease. To show that someone has Spinocerebellar Ataxia Type 1 they have to go through a molecular genetic test. This type of test determines if someone has the disorder 100% of the time and will find if a trinucleotide repeat is present (the repeating…

Stumbling over nothing, my father falls flat onto the ground. Unsurprised, a hint of annoyance pricks at my mind. I stand with an exasperated sigh and help him up. Just another day. I hate my compulsive anger, but I am not angry with him. I’m angry at this disease that is slowly destroying my father and taking him away from me. My father has Spinocerebellar Ataxia, a neurodegenerative disease that affects a person's speech and balance; a rare and incurable condition that runs throughout the…

Emotive and beguiling, In Crystal Skin beautifully depicts what a day is like for a young girl living with a rare skin disease. At only eleven years old, Maria Alejandra is as youthful, playful and imaginative as her peers. But, she deals with something that has gifted her wisdom most children her age don’t have. Maria suffers from Epidermolysis Bullosa (EB) which is a group of connective tissue diseases that cause blisters and tears when trauma or friction occurs to the skin. EB causes the…

Spinocerebellar ataxia type 7 (SCA7) is an autosomal dominant neurodegenerative disease caused by a pathological expansion of CAG trinucleotide repeat located in exon 3 of the ATXN7 gene (). The abnormal expansion results in the incorporation of a segment of polyglutamines into the mutant protein, which induces loss of neurons within the cerebellum, retina, and brainstem. This neuronal death leads to diverse clinical manifestations, which include progressive gait ataxia, pigmental macular…

(Marchevsky and Richardson 1999): A Rottweiler, 8 years of age, reported with ataxia in the hindlimbs, in addition to patellar hyperreflexia together with deficits in proprioception and posture. Neck pain was also presented. Although some mild ataxia was reportedly seen in the forelimbs, proprioception and reflexes were normal. This was enough evidence to suggest a cervical spinal cord lesion. Radiographs obtained under sedation, showed a reduction of the intervertebral disc space between…

INTRODUCTION Multiple system atrophy (MSA) is characterized by a combination of parkinsonism, cerebellar ataxia, autonomic dysfunction and corticospinal tract impairment [1]. There are two subtypes of MSA according to the dominant clinical features; MSA-P presenting parkinsonism and MSA-C presenting cerebellar symptoms. The cardinal features of MSA-C are common to hereditary spinocerebellar ataxia (SCA), which demonstrates variable onset ages and a slower progression. Indeed, considerable…

In a regular person is repeats between 6 to 35 times, but in people with SCA1 it repeats 40, 50, 60 and 70. Question 5: Which organ and cell type are primarily affected by the mutation? Is this consistent with the symptoms observed in SCA1 patients? The cell that is primary affected by the mutation are the purkinje cells and the organ is the cerebellum. It also involve the brainstem and spinal cord (Schols et al., 2004; Taroni and DiDonato, 2004). Question 6: From the video describe the…

with subsequent meiosis, hence, an increased CAG length is inherited by the progeny, resulting in more severe disease. HD is diagnosed on clinical grounds with positive genetically proven family history. A genetic testing is advised if a family history is absent or not genetically proven. An MRI of the brain reveals caudate nucleus atrophy. MRI of the brain also excludes other conditions; the most important of which are stroke, multiple sclerosis, and neuroacanthosis. HD is a progressive…

Elucidating the role of Heat shock proteins in poly glutamine (Poly Q) model in Dictyostelium discoideum . Introduction : Expansion of CAG trinucleotide repeats encoding poly glutamine (poly Q) tract in other wise unrelated proteins are responsible to atleast nine diseases . These diseases include Huntington’s disease (HD), spinobulbar muscular atrophy, dentatorubral pallidoluysian atrophy, and spinocerebellar ataxia (SCA) types 1, 2, 3, 6, 7, and 17.(1) Clinical features include ataxia and…

(degenerative, vascular, demyelinating, tumor, traumatic, toxic/metabolic/endocrine, and other possible causes) to the cerebellar control circuit, which consists of the cerebellum and its connections. It may cause problems in the articulatory, respiratory, phonatory, and resonatory components of speech. However, the disorder is most evident through the articulatory and prosodic components of speech. Individuals with ataxic dysarthria exhibit the characteristics of slowness and inaccuracy in the…