Natural History of Neuronal Ceroid Lipofuscinosis, Batten's CLN6 Diseae

Neuronal Ceroid Lipofuscinosis (NCL) is the most common childhood neurodegenerative disorder
characterized by accumulation of autofluorescent waxy lipopigments in the brain and other
tissues. The symptoms manifest as blindness, seizures, ataxia, myoclonus and loss of
milestones or dementia. This group of disorders caused by an intracellular accumulation of
lipopigment (ceroid lipofuscin) material leads to neuronal death and is the most prevalent
class of childhood neurodegenerative disease.

There are 14 types of NCL with 13 genotypes. Most of these are autosomal recessive. Neuronal
ceroid lipofuscinosis, type 6 usually present like a late infantile NCL (CLN2) but can also
present at as a juvenile onset (Mole). The natural history is not well established and the
presentation maybe variable. There are currently no published data on the disease progression
of children with CLN6 disease

CLN6 is a rare, neurodegenerative disease that causes progressive loss of acquired skills
with motor delay, visual loss, seizures and ataxia. The investigators propose a natural
history study of this rare disorder since it is currently unknown. Although there are
descriptions of the clinical spectrum, the natural history has not been well described. It is
important to understand disease progression in CLN6 disease to be able to judge therapeutic
efficacy for as emerging therapies like gene therapy become available. The investigators will
identify children with a genotypic diagnosis of CLN6 who are consulting Nationwide Children's
hospital. The investigators will also recruit patients through family conferences of Batten's
disease Support and Research association. The investigators propose a retro prospective chart
review and longitudinal phone follow-up of with diagnosis of CLN6 to understand the onset and
progression of this disease.

CLN6 is a rare, neurodegenerative disease that causes progressive loss of acquired skills
with motor delay, visual loss, seizures and ataxia. The investigators propose a natural
history study of this rare disorder since it is currently unknown. Although there are
descriptions of the clinical spectrum, the natural history has not been well described. It is
important to understand disease progression in CLN6 disease to be able to judge therapeutic
efficacy for as emerging therapies like gene therapy become available. The investigators will
identify children with a genotypic diagnosis of CLN6 who are consulting Nationwide Children's
hospital. Patients will also be recruited through family conferences of Batten's disease
Support and Research association.

OBJECTIVES:

The primary objectives of this study include the following:

1. Assess the natural history of CLN6 by performing a prospective, longitudinal chart
review and phone follow-up of patients who have a diagnosis of Batten's disease, with a
specific genotype of CLN6.

2. To promote better understanding of this disease to compare therapeutic efficacy with
emerging therapies

Inclusion Criteria:

- Confirmed diagnosis of genotypic diagnosis of CLN6

Exclusion Criteria:

- Patients who do not have a genotypic diagnosis of CLN6