What is neuronal ceroid lipofuscinosis?

Neuronal ceroid lipofuscinosis (NCL) refers to a group of conditions that affect the nervous system. Signs and symptoms vary widely between the forms but generally include a combination of dementia , vision loss, and epilepsy .

What is juvenile neuronal ceroid lipofuscinosis?

Juvenile neuronal ceroid lipofuscinoses (JNCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset at early school age with vision loss due to retinopathy, seizures and the decline of mental and motor capacities.

What is neuronal ceroid?

Neuronal ceroid lipofuscinosis is the general name for a family of at least eight genetically separate neurodegenerative lysosomal storage diseases that result from excessive accumulation of lipopigments (lipofuscin) in the body’s tissues. These lipopigments are made up of fats and proteins.

How common is neuronal ceroid lipofuscinosis?

Adult neuronal ceroid lipofuscinoses are extremely rare disorders. The prevalence is estimated to be about 1.5 people per 9,000,000 in the general population. Prevalence is the total numbers of individuals with a disease at a given time.

How is neuronal ceroid lipofuscinosis inherited?

Lipofuscinoses are inherited as autosomal recessive traits. This means each parent passes on a nonworking copy of the gene for the child to develop the condition. Only one adult subtype of NCL is inherited as autosomal dominant trait.

What is Batten’s disease life expectancy?

The onset of late infantile Batten disease is between ages two to four. The life expectancy is between ages eight to 10. Juvenile Batten disease occurs in children between ages five and 10. These patients usually live until their late teens or early 20s.

Is Batten disease always fatal?

Over time, affected children suffer mental impairment, worsening seizures, and progressive loss of sight and motor skills. Eventually, children with Juvenile Batten Disease become blind, bedridden, and unable to communicate. Juvenile Batten Disease is always fatal by the late teens or twenties.

How long do you live with Batten’s disease?

Children with Batten disease have a greatly shortened life expectancy. Children with infantile Batten disease often die in early childhood. Children with later onset forms of the disease may live into their teens to thirties, while those who develop the disease in adulthood may have a normal life expectancy.

What is neuronal ceroid lipofuscinosis in dogs?

Neuronal ceroid lipofuscinosis (NCL) is a group of progressive degenerative diseases of the central nervous system. Signs of disease in affected dogs begin between one and two years of age and include behavior issues such as: anxiety, constant circling, aggression, compulsive behaviors, and loss of learned skills.

What is NCL in medicine?

Neuronal ceroid lipofuscinoses (NCL) refers to a group of rare disorders of the nerve cells. NCL is passed down through families (inherited). These are the three main types of NCL: Adult (Kufs or Parry disease)

What are the symptoms of Batten disease?

Vision loss (this symptom does not affect adults with Batten disease).
Epilepsy (seizures).
Cognitive problems, trouble learning or difficulty keeping up in school.
Problems with speaking.
Clumsiness and issues with coordination, balance and movement.

What disease did Kennedy Hansen have?

Kennedy Hansen had already lost her vision and most of her motor skills to Batten disease by 2013, but when the head of her cheerleader squad went around a circle at practice one day asking each member to name their life challenge, Hansen astounded everyone, including her parents, by replying she had none.