Clinical description SCA4 typically starts in middle-aged adults and presents with cerebellar ataxia, pyramidal signs, and peripheral sensory loss. [orpha.net]

In the present study, the first available cerebellar and brainstem tissue of a clinically diagnosed and genetically-confirmed German SCA4 patient was pathoanatomically studied using serial thick sections. [ncbi.nlm.nih.gov]

R....Bhomaj S. 2016 3 Meningoencephalitis, myositis, and rash-neurological presentation of Indian tick typhus. ( 27365979 ) Nigam G....Sobhana C. 2016 4 Indian tick typhus presenting with gangrene: a case report from an urban slum of delhi. ( 23783766 [malacards.org]

The clinical presentation of these 6 cases was variable. [annalsofian.org]

Clinically, our SCA11 patients had phenotypic characteristics as described before presenting with slowly progressive almost pure cerebellar ataxia with normal life expectancy. [hal.archives-ouvertes.fr]

• Hunting

  Michaelides M, Wilkie SE, Jenkins S, Holder GE, Hunt DM, Moore AT, Webster AR. Mutation in the gene GUCA1A, encoding guanylate cyclase-activating protein 1, causes cone, cone-rod, and macular dystrophy. Ophthalmology. 2005;112:1442–1447. 29. [journals.lww.com]

• Long Arm

  In spinocerebellar ataxia type 17 (HDL4) it is affected TBP gene, located on the long arm of chromosome 6 (6q27). The TBP gene encoding the binding protein TATA, important for the development of normal brain function box. [ivami.com]

• Retinal Pigmentation

  Focal thickening of the retinal pigment epithelium complex was present in the right eye (Fig. 4). Measurement of macular and global RNFL thickness was normal (Table 2). [journals.lww.com]

• Anger

  Angers, France; Department of Ophthalmology (DM), Copenhagen University Hospital, Copenhagen, Denmark; and Singapore National Eye Centre and Singapore Eye Research Institute (DM), Singapore. [journals.lww.com]

• Narrow Face

  face, prominent narrow jaw, frontal bossing, malar flushing), and developmental delay/intellectual disability. [chginc.org]

• Cerebellar Ataxia

  Abstract Spinocerebellar ataxia type 4 (SCA4) is an autosomal dominant disorder mapped to chromosome 16q22.1 in a large Utah kindred. The clinical phenotype is characterized by cerebellar ataxia with sensory neuropathy. [ncbi.nlm.nih.gov]

  Disease definition Spinocerebellar ataxia type 4 (SCA4) is a very rare progressive and untreatable subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by ataxia with sensory neuropathy. [orpha.net]

  ataxia in a European population. [genecards.org]

  Additionally, 16q22.1-linked autosomal dominant cerebellar ataxia (16q-ADCA) is one of the most common autosomal dominant cerebellar ataxia in Japan, particularly in Nagano, where it accounts for ∼42% of autosomal dominant cerebellar ataxia families. [academic.oup.com]

• Areflexia

  ] 0001288 Motor deterioration Progressive degeneration of movement 0002333 5%-29% of people have these symptoms Motor axonal neuropathy 0007002 Sensory axonal neuropathy 0003390 Percent of people who have these symptoms is not available through HPO Areflexia [rarediseases.info.nih.gov]

  (1–20) Also called Machado-Joseph disease (MJD) [11] Gaze-evoked nystagmus (a rapid, involuntary, oscillatory motion of the eyeball) upper motor neuron slow saccades Azores ( Portugal ) CAG repeat, 14q SCA4 ( PLEKHG4 ) 4th–7th decade (19–72) Decades areflexia [en.wikipedia.org]

  Examination of lower and upper limb for reflex can also help to diagnosis because people will development areflexia or hyporeflexia in their limbs[3]. [neurowiki2013.wikidot.com]

  Clinical features It is phenotypically similar to Friedreich ataxia (FRDA), with head titubation (28%), SCA, areflexia, and proprioception loss. Skin is affected by xanthelasmata and tendon xanthomas. [emedicine.medscape.com]

  Relative values: Labyrinth preponderance >41% Nystagmus directional preponderance >36% (Jongkees formula) Absolute value: 24°/sec (hyperreflexia) and areflexia Relative values: Labyrinth preponderance >41% Nystagmus directional preponderance >36% (Jongkees [tinnitusjournal.com]

• Hyporeflexia

  […] not available through HPO Areflexia Absent tendon reflexes 0001284 Autosomal dominant inheritance 0000006 Babinski sign 0003487 Cerebellar atrophy Degeneration of cerebellum 0001272 Distal sensory impairment Decreased sensation in extremities 0002936 Hyporeflexia [rarediseases.info.nih.gov]

  Postural and resting tremor Rigidity Cognitive impairment Cerebellar atrophy Spinocerebellar ataxia 22 See the list below: Clinical features Slowly progressive Gait and limb ataxia Hyporeflexia Dysarthria with scanning speech and dysphagia Intermittent [emedicine.medscape.com]

  The difference in proportions test revealed a significant difference between bilateral vestibular hyporeflexia and the absence of rotational nystagmus (p = 0.0138*). [tinnitusjournal.com]

  Current clinical features Cerebellar features Cerebellar dysarthria, limb and truncal ataxia, slow saccades, wheelchair bound Cerebellar dysarthria, limb and truncal ataxia Saccadic speech, dysphagia, slow saccades, limb and truncal ataxia, titubation, hyporeflexia [movementdisorders.org]

  Examination of lower and upper limb for reflex can also help to diagnosis because people will development areflexia or hyporeflexia in their limbs[3]. [neurowiki2013.wikidot.com]

• Babinski Sign

  Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. [rarediseases.info.nih.gov]

  Clinical features Areflexia, proprioceptive dysfunction, loss of reflexes, and Babinski sign (prominent findings) By 5-10 years, gait disturbances and cerebellar signs Malabsorptive state in the early years with steatorrhea and abdominal distension Pes [emedicine.medscape.com]

• Responsiveness Decreasing

  […] sensation in extremities 0002936 Hyporeflexia Decreased reflex response Decreased reflexes [ more ] 0001265 Impaired smooth pursuit 0007772 Limb dysmetria 0002406 Progressive cerebellar ataxia 0002073 Sensory neuropathy Damage to nerves that sense feeling [rarediseases.info.nih.gov]

In selected patients with lower cranial dystonia, especially jaw and tongue dystonia, SCA2 might be considered during the diagnostic workup. [movementdisorders.org]

Thus, SYCP3 testing may be considered in the workup for women with recurrent pregnancy loss, and in males with non-obstructive azoospermia. Our laboratory offers DNA sequencing of all coding exons (2-9) of the SYCP3 gene. [chginc.org]

[…] of Spinocerebellar Ataxia Medical research yet now unable to discover the curative treatment for spinocerebellar ataxia, even the available treatment is not able to control the disease progression. [healthsaline.com]

Seventeen states have approved medical marijuana for the treatment of spasms, which are commonly associated with spinocerebellar ataxia. [medicalmarijuanainc.com]

Although there is no cure, treatment options may include physical therapy, assistive devices, and medications depending on the type and severity of symptoms present. [rarediseases.info.nih.gov]

& Business Media, 11 mar. 2010 - 304 páginas This reference on the state-of-the-art of neuromuscular diseases as a whole offers a current review of inherited neuromuscular diseases under different approaches: genetics, pathomechanisms, therapies and treatments [books.google.es]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Prognosis There is insufficient clinical data to draw conclusions concerning prognosis. [orpha.net]

Prognosis Prognosis is highly variable between the different types but improvement is unlikely. [patient.info]

The prognosis is bleak, with a gradual progression to disability and death within 10-20 years. Ref: Orr, H.T. et al. (1993). Expansion of an unstable CAG trinucleotide repeat in spinocerebellar ataxia type I. Nature Genet. 4, 221-26. [gpnotebook.co.uk]

Prognosis Spinocerebellar ataxias due to repeat expansion mutations usually become sick in middle age. In addition to ataxia, other neurological findings are often present depending on the variant of SCA. [verywell.com]

Prognosis The prognosis for a person with ataxia depends upon the type and nature of the disease. Ataxia as a result of trauma or infection may be a temporary condition, or leave some degree of permanent disability. [encyclopedia.com]

Etiology The disease has been linked to chromosome 16q22.1 in kindreds from Utah (USA) and Germany but the mutation is yet unknown and does not appear to involve trinucleotide repeats. [orpha.net]

Its etiology is mostly caused by mutations characterized by the presence of an expansive and unstable CAG trinucleotide repeat in the coding region of the tested gene. [tinnitusjournal.com]

Moreover, increased intracellular Ca 2+, which promotes transglutaminase activation, is of vital importance in the etiology of neurologic diseases. [emedicine.medscape.com]

Summary Epidemiology Prevalence is unknown. Clinical description SCA4 typically starts in middle-aged adults and presents with cerebellar ataxia, pyramidal signs, and peripheral sensory loss. [orpha.net]

Molecular epidemiology of spinocerebellar ataxias in Cuba: insights into SCA2 founder effect in Holguin. Neurosci Lett. 2009 Apr 24;454(2):157-60. doi: 10.1016/j.neulet.2009.03.015. Epub 2009 Mar 11. [ghr.nlm.nih.gov]

Epidemiology Prevalence of ADCAs has been estimated as between 0.3 to 2 per 100,000 [ 7 ]. [patient.info]

Sequeiros J: Machado- Joseph disease: epidemiology, genetics and genetic epidemiology; in Lechtenberg R (ed): Handbook of Cerebellar Diseases, Dekker, NY, 1993, pp. 345- 351. Nance MA, Myers RH. [bvs.sld.cu]

Spinocerebellar degenerations in Japan: new insights from an epidemiological study. Neuroepidemiol. 2009;32:184-5. Teive HA, Munhoz RP, Raskin S,Arruda WO, de Paola L, Werneck LC, et al. [tinnitusjournal.com]

The CAG-polyglutamine repeat diseases: a clinical, molecular, genetic, and pathophysiologic nosology Stoyas CA, La Spada AR Handbook of clinical neurology, 2018, 147, p 143 Cajal bodies in neurons Lafarga M, Tapia O, Romero AM, et al. [myobase.org]

Anatomically based guidelines for systematic investigation of the central somatosensory system and their application to a spinocerebellar ataxia type 2 (SCA2) patient Neuropathol Appl Neurobiol 29 418 433 CrossRef Google Scholar Said, G, Thomas, PK 1992 Pathophysiology [link.springer.com]

"Cerebellar ataxia: Pathophysiology and rehabilitation". Clinical Rehabilitation. 25 (3): 195–216. doi : 10.1177/0269215510382495. PMID 21321055. ^ "SCA2 information sheet from www.ataxia.org" (PDF). Archived from the original (PDF) on 2012-07-12. [en.wikipedia.org]

This helps avoid repeated freeze-thaw cycles, as well as prevent loss of virus. To maintain accurate titer, aliquot in at least 20ul per tube. [vectorbiolabs.com]

Involved in degradation of misfolded chaperone substrates via its interaction with STUB1/CHIP- recruited to monoubiquitinated STUB1/CHIP, and restricts the length of ubiquitin chain attached to STUB1/CHIP substrates and preventing further chain extension [string-db.org]

Protein coding - E0CYM2 - 3' truncation in transcript evidence prevents annotation of the end of the CDS. CDS 3' incomplete Transcript Support Level 5, for transcripts that are not supported at all by either an mRNA or an EST. [ensembl.org]