×

Please Remove Adblock
Adverts are the main source of Revenue for DoveMed. Please remove adblock to help us create the best medical content found on the Internet.

Cerebellar Ataxia and Hypogonadotropic Hypogonadism Syndrome

Last updated May 4, 2018

Approved by: Krish Tangella MD, MBA, FCAP

Cerebellar Ataxia and Hypogonadotropic Hypogonadism Syndrome is a very rare neurodegenerative disorder, characterized by the combination of progressive cerebellar ataxia and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics).


What are the other Names for this Condition? (Also known as/Synonyms)

  • Cerebellar Ataxia-Hypogonadism Syndrome
  • Gordon-Holmes Syndrome
  • Luteinizing Hormone-Releasing Hormone Deficiency with Ataxia

What is Cerebellar Ataxia and Hypogonadotropic Hypogonadism Syndrome? (Definition/Background Information)

  • Cerebellar Ataxia and Hypogonadotropic Hypogonadism Syndrome or Cerebellar Ataxia-Hypogonadism Syndrome, is a very rare autosomal recessive neurodegenerative disorder characterized by the combination of progressive cerebellar ataxia with onset from early childhood to the fourth decade, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics)
  • This syndrome belongs to a clinical continuum of neurodegenerative disorders along with clinically overlapping disorders such as ataxia-hypogonadism-choroidal dystrophy syndrome

(Source: Cerebellar Ataxia-Hypogonadism Syndrome; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

Who gets Cerebellar Ataxia and Hypogonadotropic Hypogonadism Syndrome? (Age and Sex Distribution)

  • Cerebellar Ataxia and Hypogonadotropic Hypogonadism Syndrome is a rare congenital disorder. The exact prevalence of this disorder is not known
  • The presentation of symptoms may occur in childhood, adolescence or adulthood
  • Both males and females may be affected
  • Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Cerebellar Ataxia and Hypogonadotropic Hypogonadism Syndrome? (Predisposing Factors)

  • A positive family history may be an important risk factor, since Cerebellar Ataxia and Hypogonadotropic Hypogonadism Syndrome can be inherited
  • Currently, no other risk factors have been clearly identified for the syndrome

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Cerebellar Ataxia and Hypogonadotropic Hypogonadism Syndrome? (Etiology)

  • Cerebellar Ataxia and Hypogonadotropic Hypogonadism Syndrome may be caused by mutation(s) in the RNF216 gene
  • The disorder is inherited in an autosomal recessive manner

Autosomal recessive: Autosomal recessive conditions are traits or disorders that occur when two copies of an abnormal gene have been inherited on a non-sex chromosome. If both parents have an autosomal recessive condition, there is a 100% likelihood of passing on the mutated genes to their children. If, however, only one mutant copy of the gene is inherited, the individual will be a carrier of the condition, but will not be present with any symptoms. Children born to two carriers, have a 25% chance of being homozygous dominant (unaffected), a 50% chance of being heterozygous (carrier), and a 25% chance of being homozygous recessive (affected).

What are the Signs and Symptoms of Cerebellar Ataxia and Hypogonadotropic Hypogonadism Syndrome?

The signs and symptoms of Cerebellar Ataxia and Hypogonadotropic Hypogonadism Syndrome may include:

Very frequently present symptoms in 80-99% of the cases:

  • Abnormal electroretinogram
  • Abnormality of retinal pigmentation
  • Abnormality of the hypothalamus-pituitary axis
  • Ataxia
  • Decreased fertility
  • Gynecomastia
  • Hypogonadotrophic hypogonadism
  • Neurological speech impairment
  • Nystagmus
  • Optic atrophy

Frequently present symptoms in 30-79% of the cases:

  • Hemiplegia/hemiparesis
  • Muscular hypotonia

Occasionally present symptoms in 5-29% of the cases:

  • Brachycephaly
  • Clinodactyly of the 5th finger
  • Dementia
  • Oligomenorrhea
  • Personality changes
  • Short stature
  • Supernumerary nipple

Additional signs and symptoms:

  • Abnormality of metabolism/homeostasis
  • Abnormality of the skeletal system
  • Cerebellar atrophy
  • Cerebral atrophy
  • Chorioretinal dystrophy

(Source: Cerebellar Ataxia and Hypogonadotropic Hypogonadism; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How is Cerebellar Ataxia and Hypogonadotropic Hypogonadism Syndrome Diagnosed?

Cerebellar Ataxia and Hypogonadotropic Hypogonadism Syndrome is diagnosed on the basis of the following information:

  • Complete physical examination
  • Thorough medical history evaluation
  • Assessment of signs and symptoms
  • Laboratory tests
  • Imaging studies
  • Biopsy studies, if necessary

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Cerebellar Ataxia and Hypogonadotropic Hypogonadism Syndrome?

The complications of Cerebellar Ataxia and Hypogonadotropic Hypogonadism Syndrome may include:

  • Progressive worsening of symptoms
  • Impulsive, aggressive or inappropriate behavior
  • Lack of movement 
  • Risk of falls
  • Severely impaired memory
  • Lack of development of secondary sexual characteristics
  • Infertility

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Cerebellar Ataxia and Hypogonadotropic Hypogonadism Syndrome Treated?

There is no cure for Cerebellar Ataxia and Hypogonadotropic Hypogonadism Syndrome, since it is a genetic condition. The treatment is usually given to manage the signs and symptoms and any complication that develops.

How can Cerebellar Ataxia and Hypogonadotropic Hypogonadism Syndrome be Prevented?

Cerebellar Ataxia and Hypogonadotropic Hypogonadism Syndrome may not be preventable, since it is a genetic disorder.

  • If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
  • Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders
  • Regular medical screening at periodic intervals with tests and physical examinations are recommended

What is the Prognosis of Cerebellar Ataxia and Hypogonadotropic Hypogonadism Syndrome? (Outcomes/Resolutions)

  • The prognosis of Cerebellar Ataxia and Hypogonadotropic Hypogonadism Syndrome is dependent upon the severity of the signs and symptoms and associated complications, if any
  • Individuals with mild conditions have better prognosis than those with severe symptoms and complications
  • Typically, the prognosis may be assessed on a case-by-case basis

Additional and Relevant Useful Information for Cerebellar Ataxia and Hypogonadotropic Hypogonadism Syndrome:

  • The involvement of additional genes in the development of Cerebellar Ataxia and Hypogonadotropic Hypogonadism Syndrome has been suggested in the scientific literature, with a proposed oligogenic inheritance (more than a single causative gene) 
  • Cerebellar Ataxia and Hypogonadotropic Hypogonadism Syndrome is also known as LHRH Deficiency and Ataxia

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/

What are some Useful Resources for Additional Information?


References and Information Sources used for the Article:


Helpful Peer-Reviewed Medical Articles:


Reviewed and Approved by a member of the DoveMed Editorial Board
First uploaded: May 4, 2018
Last updated: May 4, 2018