Neuronal Ceroid Lipofuscinoses Clinical Presentation

Updated: May 04, 2017
  • Author: Celia H Chang, MD; Chief Editor: Amy Kao, MD  more...
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Presentation

History and Physical Examination

CLN1 NCL (also called Santavuori-Haltia type or infantile NCL)

The infantile phenotype includes the following characteristics:

  • Retarded head growth
  • Hypotonia
  • Hyperexcitability
  • Cognitive dysfunction
  • Visual failure
  • Ataxia
  • Extrapyramidal movements
  • Spasticity
  • Myoclonus
  • Increased risk of hypothermia and bradycardia with anesthesia. [13]
  • Loss of light perception at age 2 years
  • Loss of motor and social skills at age 3 years
  • Death between ages 6 and 13 years

The late-infantile phenotype includes the following characteristics:

  • Cognitive decline, epilepsy, visual loss at age 1.5-3.5 years
  • Resembles CLN2 NCL
  • Death between ages 10 and 13 years

The juvenile phenotype includes the following characteristics:

  • Visual loss or learning disabilities at age 5-7 years
  • Resembles CLN3 NCL, except that epilepsy occurs later and motor disability occurs earlier

The adult phenotype includes the following characteristics:

  • Starts in the third decade
  • Psychiatric symptoms with progressive cognitive decline
  • Ataxia
  • Parkinsonism
  • Optic nerve atrophy
  • Alive in mid-50s

CLN2 NCL (also called Jansky-Bielschowsky type or late-infantile NCL)

The late-infantile phenotype includes the following characteristics:

  • Onset between ages 2 and 4 years
  • Epilepsy
  • Cognitive decline
  • Ataxia
  • Myoclonus
  • Extrapyramidal symptoms
  • Pyramidal symptoms
  • Blindness at age 4-6 years
  • Death before or in the second decade of life

The juvenile phenotype includes the following characteristics:

  • Onset between ages 6 and 8 years
  • Progressive cognitive decline
  • Seizures
  • Ataxia
  • Motor dysfunction
  • Variable vision loss
  • Survival up to the fourth decade possible

CLN3 NCL (also called Spielmeyer-Sjögren type, Spielmeyer-Sjögren-Vogt type, juvenile NCL, or Batten disease)

The classic phenotype includes the following characteristics.

  • Progressive visual loss at age 4-7 years, with blindness within 2-10 years
  • Speech disturbance
  • Cognitive decline, including attention problems
  • Epilepsy
  • Psychiatric symptoms in 74% of patients, including aggression
  • Parkinsonism
  • Myoclonus
  • Sleep disturbance
  • Pyramidal symptoms
  • Cerebellar symptoms
  • Extrapyramidal symptoms
  • Progressive cardiac disease with conduction abnormalities and hypertrophy [14]

In the protracted form of CLN3 NCL, only visual loss occurs until age 40 years, after which other symptoms manifest.

Neuropsychological testing

Adams et al found that children with CLN3 NCL had significant impairment in auditory attention, memory, verbal intellectual function, and fluency. Neuropsychological impairment was progressive over time and correlated with disease duration and motor function. [15, 16]

CLN4 NCL (also called Kufs disease or adult NCL)

Symptoms usually at age 30 years but can present at age 11 years. The type A form includes the following characteristics:

  • Progressive myoclonic epilepsy
  • Dementia
  • Ataxia
  • Pyramidal symptoms
  • Extrapyramidal symptoms

The type B form of CLN4 NCL includes the following characteristics:

  • Behavioral abnormalities
  • Dementia
  • Motor dysfunction
  • Ataxia
  • Extrapyramidal symptoms
  • Suprabulbar symptoms
  • Onset possibly after age 50 years

CLN5 NCL (also called Finnish variant late-infantile NCL)

See the list below:

  • Onset at age 4.5-7 years
  • Motor clumsiness
  • Concentration problems
  • Similar to CLN2 NCL, but with a slower course
  • Death in the second or third decade

CLN6 NCL (also called variant late-infantile/early juvenile NCL or Lake Cavanagh disease)

See the list below:

  • Onset between ages 18 months and 8 years
  • Visual loss
  • Seizures
  • Resembles CLN2 NCL
  • Loss of motor skills between ages 4 and 10 years
  • Death in the second or third decade

CLN7 NCL

CL7 NCL includes the following characteristics [17] :

  • Mean age of 5 years at disease onset
  • Seizures or motor impairment at onset
  • Mental regression
  • Myoclonus
  • Speech impairment
  • Loss of vision
  • Personality disorders

CLN8 NCL (also called Turkish variant late-infantile NCL or Northern epilepsy)

Turkish variant late infantile NCL includes the following characteristics:

  • Onset at age 3-7.5 years
  • Progressive visual loss
  • Speech delay
  • Seizures
  • Intellectual decline
  • Myoclonus
  • Ataxia

Northern epilepsy includes the following characteristics:

  • Epilepsy at age 5-10 years
  • Slight motor dysfunction
  • Slowly progressive mental retardation
  • May have reduced visual acuity
  • May survive to the sixth decade

CLN9 NCL

CLN9 NCL includes the following characteristics [18] :

  • Onset at age 4 years, with declining vision and seizures
  • Progressive ataxia
  • Cognitive decline
  • Rigidity