NEURODEGENERATIVE DISEASES

EUFEMIO E. SOBREVEGA, MD
FELLOW, PHIL. NEUROLOGICAL ASSOCIATION
FELLOW, PHIL. PSYCHIATRIC ASSOCIATION

MOTOR NEURON DISEASE

EUFEMIO E. SOBREVEGA, MD
FELLOW, PHIL. NEUROLOGICAL ASSOCIATION
FELLOW, PHIL. PSYCHIATRIC ASSOCIATION

AMYOTROPHIC LATERAL SCLEROSIS

(ALS)
PROGRESSIVE DEGENERATION AND LOSS OF
MOTOR NEURONS IN THE SPINAL CORD
WITH OR WITHOUT SIMILAR LESIONS IN THE
MOTOR NUCLEI OF THE BRAINSTEM OR MOTOR
CORTEX,

REPLACEMENT OF THE LOST CELL BY GLIOSIS.

AMYOTROPHIC LATERAL SCLEROSIS

(ALS)

BOTH THE UPPER AND LOWER MOTOR

NEURONS ARE AFFECTED.

MOTOR NEURON OF THE ADULT ONSET

AMYOTROPHIC LATERAL SCLEROSIS

(ALS)
ALSO CALLED Lou Gehrigs disease

Onset: Middle and Late Adulthood

Males affected 2X than females
The occurrence of dementia and parkinsonism
seem to increase in 1st degree relatives of
patients with ALS

AMYOTROPHIC LATERAL SCLEROSIS

(ALS)

Possible Pathogenesis:
1.
2.
3.
4.

Lead and mercury intoxication

Excitotoxic amino acids glutamate
Autoimmune disorder
Paraneoplastic form

AMYOTROPHIC LATERAL SCLEROSIS

(ALS)
Clinical Manifestations:
Weakness of legs, hands, proximal arms or
oropharynx (slurred speech or dysarthria;
difficulty swallowing),
Gait maybe impaired with characteristic foot
drop which later on becomes spastic.
Muscle wasting, atrophy. fasciculations

AMYOTROPHIC LATERAL SCLEROSIS

(ALS)

Lower motor neuron signs must be evident if the

diagnosis is to be considered:
Fasciculations tongue or extremities

Deep tendon reflexes may be increased (UMN) or

decreased (LMN)

AMYOTROPHIC LATERAL SCLEROSIS

(ALS)
The combination of overactive DTRs with Hoffmans
signs in arms with weak, wasted and fasciculating
muscles is pathognomonic of ALS.
Cranial Nerve motor nuclie are implicated by
dysarthria, lingual wasting and fasciculation,
and impaired movement of the uvula.

AMYOTROPHIC LATERAL SCLEROSIS

(ALS)
Course is often progressive without remissions

Death results from respiratory failure;

aspiration pneumonitis or pulmonary
embolism after prolonged immobility

AMYOTROPHIC LATERAL SCLEROSIS

(ALS)
Clinical diagnosis should be confirmed by
EMG (electromyography)
Treatment is symptomatic

MOTOR NEURON DISEASE IN

CHILDREN
INFANTILE SPINAL MUSCULAR ATROPHY
(WERDNIG-HOFFMANN DISEASE)
JUVENILE SPINAL MUSCULAR ATROPHY
(KUGELBERG- WELANDER DISEASE)

INFANTILE SPINAL MUSCULAR ATROPHY

(WERDNIG-HOFFMANN DISEASE)

AUTOSOMAL RECESSIVE
1ST 3 MONTHS OF LIFE
FLOPPY INFANT, DIFFICULTY SUCKING, MUSCLE
WASTING

RAPIDLY PROGRESSIVE DEATH FROM

RESPIRATORY COMPLICATIONS AT ABOUT 3
YEARS.

JUVENILE SPINAL MUSCULAR ATROPHY

(KUGELBERG-WELANDER DISEASE)

DEVELOPS IN CHILDHOOD OR ADOLESCENCE

HEREDITARY (AUTOSOMAL RECESSIVE) OR
SPORADIC
TENDS TO AFFECT PROXIMAL LIMB MUSCLES
GRADUALLY PROGRESSIVE
NO EFFECTIVE TREATMENT

MOTOR NEURON DISEASE IN ADULTS

CLASSIFICATION:
1.
2.
3.
4.
5.

PROGRESSIVE BULBAR PALSY

PSEUDOBULBAR PALSY
PROGRESSIVE SPINAL MUSCULAR ATROPHY
PRIMARY LATERAL SCLEROSIS
AMYOTROPHIC LATERAL SCLEROSIS

PROGRESSIVE BULBAR PALSY 1

BULBAR INVOLVEMENT PREDOMINATES

AFFECTS MOTOR NUCLIE OF CRANIAL

NERVES

PSEUDOBULBAR PALSY

BILATERAL INVOLVEMENT OF THE

CORTICOBULBAR PATHWAYS
USUALLY WITH DYSPHAGIA
EMOTIONAL LABILITY

PROGRESSIVE SPINAL MUSCULAR ATROPHY

LOWER MOTOR NEURON DEFICITS IN THE

LIMBS.
ANTERIOR HORN CELL DEGENERATION IN
THE SPINAL CORD.

PRIMARY LATERAL SCLEROSIS 4

RARE; PURELY MOTOR NEURON

DEFICITS FOUND IN THE LIMBS.

AMYOTROPHIC LATERAL SCLEROSIS

MIXED UPPER MOTOR NEURON (UMN)

AND LOWER MOTOR NEURON (LMN)
FOUND IN THE LIMBS.
BULBAR INVOLVEMENT OF UMN OR LMN
TYPE.

SYRINGOMYELIA

SYRINGOMYELIA
CAVITATION OF THE SPINAL CORD
RARE DESTRUCTIVE CONDITION
SYRINGOBULBIA - (CAVITATION OF THE
BRAINSTEM)

SYRINGOMYELIA
CLINICAL FEATURES:
OCCURS MOST COMMONLY IN THE
CERVICAL SPINAL CORD.
DISSOCIATED SENSORY LOSS AT THE LEVEL OF
THE LESION.

PINPRICK AND TEMPERATURE IMPAIRED,

BUT LIGHT TOUCH SENSATION IS
PRESERVED.

SYRINGOMYELIA
CLINICAL FEATURES:
WEAKNESS AND WASTING OF MUSCLES AT THE
LEVEL OF THE LESION BECAUSE OF
INVOLVEMENT OF ANTERIOR HORN
CELLS.
CAPELIKE OR SHAWL LIKE DISTRIBUTION OF
SENSORY LOSS OVER THE SHOULDERS.

SUBACUTE COMBINED DEGENERATION

VITAMIN B12 DEFICIENCY

MAYBE DUE TO IMPAIRED ABSORPTION BY THE
GI TRACT, PERNICIOUS ANEMIA, POST SURGERY,
ETC.
VIBRATION IS DIMINISHED: IMPAIRED
POSITION SENSE.

SUBACUTE COMBINED DEGENERATION

Other Manifestations:
DISTAL PARESTHESIAS AND WEAKNESS IN
EXTREMITIES.
DEGENERATION/DEMYELINATION OF
POSTERIOR COLUMNS, PYRAMIDAL TRACTS,
CEREBELLAR TRACTS.

PROGRESSIVE SUPRANUCLEAR PALSY

CHRONIC PROGRESSIVE BRAIN DISEASE
CHARACTERIZED BY:
SUPRANUCLEAR OPTHALMOPLEGIA AFFECTING
CHIEFLY VERTICAL GAZE
PSEUDOBULBAR PALSY
PROMINENT NECK DYSTONIA
BEHAVIORAL AND COGNITIVE DISTURBANCES
PARKINSONISM
DISTURBANCES IN GAIT
IMPAIRED EQUILIBRIUM AND FALLS

OLIVOPONTOCEREBELLAR ATROPHY

GROUP OF INHERITED DEGENERATIVE

DISORDERS CHARACTERIZED BY A
PREDOMINANT INVOLVEMENT OF THE
BRAINSTEM AND CEREBELLUM.

FRIEDREICH ATAXIA
DEGENERATIVE DISEASE OF CHILDHOOD AND
EARLY ADULT LIFE
PRIMARILY INVOLVES THE LONG TRACTS OF
THE SPINAL CORD
AUTOSOMAL RECESSIVE TRAIT
CARDIAC HYPERTROPHY IN 2/3 OF CASES
CLINICAL DIABETES M. IN 20% OF CASES
TREATMENT IS SYMPTOMATIC.

Parkinsons Disease
Clinical symptoms
Tremors
Cogwheel rigidity
Slowed Movements
(Bradykinesia)
Pathology hallmarks
Nigostriatal degeneration
DA neuronal degeneration in
SN

Huntingtons Disease
Clinical symptoms
Chorea,
Dementia

Pathology hallmarks
Striopallidal degeneration
Decreased striatal volume
Decrease in 5-HT1B receptors in
ventral pallidum

WILSONS DISEASE:
MAY INITIALLY PRESENT AS PARKINSONISM
HEPATOLENTICULAR DEGENERATION

INBORN ERROR OF COPPER METABOLISM

CIRRHOSIS OF THE LIVER; DEGENERATIVE CHANGES
OF THE BASAL GANGLIA.

WILSONS DISEASE:
CERULOPLASMIN LEVELS USUALLY LOW

KAYSER-FLEICHER RING- COMMON OCULAR

FINDING.
WING BEATING TREMORS

D-PENICILLAMINE IS AN EFFECTIVE CHELATING

AGENT