Electroclinical spectrum of the neuronal ceroid lipofuscinoses associated with CLN6 mutations.

ABSTRACT:

Objectives

To describe the clinical and neurophysiologic patterns of patients with neuronal ceroid lipofuscinoses associated with CLN6 mutations.

Methods

We reviewed the features of 11 patients with different ages at onset.

Results

Clinical disease onset occurred within the first decade of life in 8 patients and in the second and third decades in 3. All children presented with progressive cognitive regression associated with ataxia and pyramidal and extrapyramidal signs. Recurrent seizures, visual loss, and myoclonus were mostly reported after a delay from onset; 7 children were chairbound and had severe dementia less than 4 years from onset. One child, with onset at 8 years, had a milder course. Three patients with a teenage/adult onset presented with a classic progr

SUBMITTER: Canafoglia L 

PROVIDER: S-EPMC4520821 | biostudies-literature | 2015 Jul

REPOSITORIES: biostudies-literature