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Ataxia

Updated : March 8, 2024





Background

Ataxia is a neurological condition characterized by a loss of coordination in the action of various muscles throughout the body. It is a clinical observation rather than an illness, and it is characterized by irregular gait, speech modifications like scanning language, and altered ocular movements such as nystagmus.

It is caused by a malfunction of the brain regions responsible for movement coordination, particularly the cerebellum. Cerebellar, vestibular, and sensory ataxias are the three forms of ataxia based on their location.

Ataxia can be classified as sporadic (no family history of ataxia and manifests in maturity), hereditary (caused by a gene deficit and exhibiting in child), or acquired (caused by a genetic defect and manifesting in childhood) (due to structural or demyelinating conditions, paraneoplastic, toxicity, infections, autoimmune, and inflammatory conditions). Friedreich ataxia is the most prevalent hereditary form of ataxia. It is caused by a mutation in the autosomal recessive gene.

Epidemiology

In children, the total prevalence of ataxia is twenty-six occurrences per 100,000. Hereditary ataxias have a prevalence rate of ten occurrences per 100,000 people worldwide. Dominant cerebellar ataxia affects 2.7 out of 100,000 people, and recessive hereditary cerebellar ataxia affects 3.3 out of 100,000 people.

In areas where consanguinity is frequent, there is a higher frequency. The prevalence of spinocerebellar ataxias ranges from 3 to 5.6 cases per 100,000 people worldwide. Spinocerebellar ataxia type 3 is the most frequent type of spinocerebellar ataxia.

Anatomy

Pathophysiology

Ataxia can be induced by a lesion that interferes with sensory propagation to the cerebellum. Spinal or sensory ataxia might result from this disease. Cerebellar ataxia is caused by a disruption in cerebral signals from the cerebellum. Both of the aforementioned disorders cause spinocerebellar ataxias.

They are autosomal dominant and occur from chromosomal CAG repetition. The most prevalent inherited ataxia is Friedreich’s ataxia. It is inherited in an autosomal recessive form. It has to do with the frataxin gene. Peripheral nerve axons are degenerating, and sensory cells are disappearing.

Patients are often in their very first and second decades of life. Gait ataxia, spastic extensor, sensory loss, loss of proprioception, plantar reflexes, pes cavus, cardiomyopathy, and atrophy of the extremities are among the multisystem disorders observed. Diabetes mellitus, hearing loss, and visual loss are all possibilities for patients.

The following are typical findings, depending on the location of the lesion:

  • Ipsilateral symptoms are caused by lesions in the lateral cerebellum, whereas diffuse symptoms are caused by diffuse lesions.
  • Leg ataxia is caused by lesions in the cerebellar hemisphere.
  • Truncal gait ataxia with limb-sparing is caused by vermis lesions.
  • Disbalance, gait ataxia, and vertigo are all indicators of tumors in the vestibulo-cerebellar area.

Etiology

Ataxia can be caused by anomalies in several parts of the neurological system, such as the spinal cord, brain, nerve roots, and nerves.

In the same patient, several kinds of ataxia can have similar or overlapping origins.

  • Tumors, multiple sclerosis, inflammation, and strokes can cause focal lesions.
  • Alcohol, antiepileptic medicines, and antidepressant medicines all have metabolic effects.
  • Radiation-related poisoning
  • Deficiency of vitamin B12
  • Hypothyroidism is a type of thyroid illness.
  • Injuries to the head
  • Gluten ataxia (Celiac disease)
  • Friedreich ataxia, Niemann-Pick disease, fragile X-linked ataxia/tremor syndrome, and ataxia-telangiectasia are all hereditary conditions.
  • Arnold-Chiari is a type of congenital malformation.
  • Wilson’s illness is a condition that affects
  • Succinic semialdehyde dehydrogenase deficit is a type of semialdehyde dehydrogenase deficiency.

Genetics

Prognostic Factors

The kind and etiology of ataxia have a big impact on the prognosis. Progressive ataxia patients may experience deteriorating symptoms over time, necessitating symptom relief.

Although hereditary ataxia does have a decreased average lifespan, some persons can live into their 5th or 6th decade. Severe types might result in mortality throughout early life.

If the reason is acquired, such as through alcohol or drugs, the root issue must be treated, and provoking factors must be removed to enhance prognosis.

Clinical History

Physical Examination

Age group

Associated comorbidity

Associated activity

Acuity of presentation

Differential Diagnoses

Laboratory Studies

Imaging Studies

Procedures

Histologic Findings

Staging

Treatment Paradigm

by Stage

by Modality

Chemotherapy

Radiation Therapy

Surgical Interventions

Hormone Therapy

Immunotherapy

Hyperthermia

Photodynamic Therapy

Stem Cell Transplant

Targeted Therapy

Palliative Care

Medication

Media Gallary

References

https://www.ncbi.nlm.nih.gov/books/NBK562284/

Ataxia

Updated : March 8, 2024




Ataxia is a neurological condition characterized by a loss of coordination in the action of various muscles throughout the body. It is a clinical observation rather than an illness, and it is characterized by irregular gait, speech modifications like scanning language, and altered ocular movements such as nystagmus.

It is caused by a malfunction of the brain regions responsible for movement coordination, particularly the cerebellum. Cerebellar, vestibular, and sensory ataxias are the three forms of ataxia based on their location.

Ataxia can be classified as sporadic (no family history of ataxia and manifests in maturity), hereditary (caused by a gene deficit and exhibiting in child), or acquired (caused by a genetic defect and manifesting in childhood) (due to structural or demyelinating conditions, paraneoplastic, toxicity, infections, autoimmune, and inflammatory conditions). Friedreich ataxia is the most prevalent hereditary form of ataxia. It is caused by a mutation in the autosomal recessive gene.

In children, the total prevalence of ataxia is twenty-six occurrences per 100,000. Hereditary ataxias have a prevalence rate of ten occurrences per 100,000 people worldwide. Dominant cerebellar ataxia affects 2.7 out of 100,000 people, and recessive hereditary cerebellar ataxia affects 3.3 out of 100,000 people.

In areas where consanguinity is frequent, there is a higher frequency. The prevalence of spinocerebellar ataxias ranges from 3 to 5.6 cases per 100,000 people worldwide. Spinocerebellar ataxia type 3 is the most frequent type of spinocerebellar ataxia.

Ataxia can be induced by a lesion that interferes with sensory propagation to the cerebellum. Spinal or sensory ataxia might result from this disease. Cerebellar ataxia is caused by a disruption in cerebral signals from the cerebellum. Both of the aforementioned disorders cause spinocerebellar ataxias.

They are autosomal dominant and occur from chromosomal CAG repetition. The most prevalent inherited ataxia is Friedreich’s ataxia. It is inherited in an autosomal recessive form. It has to do with the frataxin gene. Peripheral nerve axons are degenerating, and sensory cells are disappearing.

Patients are often in their very first and second decades of life. Gait ataxia, spastic extensor, sensory loss, loss of proprioception, plantar reflexes, pes cavus, cardiomyopathy, and atrophy of the extremities are among the multisystem disorders observed. Diabetes mellitus, hearing loss, and visual loss are all possibilities for patients.

The following are typical findings, depending on the location of the lesion:

  • Ipsilateral symptoms are caused by lesions in the lateral cerebellum, whereas diffuse symptoms are caused by diffuse lesions.
  • Leg ataxia is caused by lesions in the cerebellar hemisphere.
  • Truncal gait ataxia with limb-sparing is caused by vermis lesions.
  • Disbalance, gait ataxia, and vertigo are all indicators of tumors in the vestibulo-cerebellar area.

Ataxia can be caused by anomalies in several parts of the neurological system, such as the spinal cord, brain, nerve roots, and nerves.

In the same patient, several kinds of ataxia can have similar or overlapping origins.

  • Tumors, multiple sclerosis, inflammation, and strokes can cause focal lesions.
  • Alcohol, antiepileptic medicines, and antidepressant medicines all have metabolic effects.
  • Radiation-related poisoning
  • Deficiency of vitamin B12
  • Hypothyroidism is a type of thyroid illness.
  • Injuries to the head
  • Gluten ataxia (Celiac disease)
  • Friedreich ataxia, Niemann-Pick disease, fragile X-linked ataxia/tremor syndrome, and ataxia-telangiectasia are all hereditary conditions.
  • Arnold-Chiari is a type of congenital malformation.
  • Wilson’s illness is a condition that affects
  • Succinic semialdehyde dehydrogenase deficit is a type of semialdehyde dehydrogenase deficiency.

The kind and etiology of ataxia have a big impact on the prognosis. Progressive ataxia patients may experience deteriorating symptoms over time, necessitating symptom relief.

Although hereditary ataxia does have a decreased average lifespan, some persons can live into their 5th or 6th decade. Severe types might result in mortality throughout early life.

If the reason is acquired, such as through alcohol or drugs, the root issue must be treated, and provoking factors must be removed to enhance prognosis.

https://www.ncbi.nlm.nih.gov/books/NBK562284/