GRAY MATTER

DISEASES OF SPINAL
CORD
SHEILA SUMARGO
INTRODUCTION

• Gray matter diseases of the spinal cord cover a heterogenous group of inherited disorders,
infectious and sporadic diseases
• MRI is usually performed to rule out secondary causes of spinal cord involvement, such
as compressive myelopathy
• Gray matter diseases of the spinal cord are not limited to gray matter only, as they will
always entail involvement of white matter structures with degeneration of efferents.
Consequentially, volume reduction of the whole spinal cord can be seen.
SPINAL AND BULBAR MUSCULAR ATROPHY
(SBMA, KENNEDY DISEASE)
• Rare inherited motor neuron disease affecting motor neurons in the pons, medulla oblongata, and
cord, caused by mutation of the androgen receptor gene on the X chromosome.
• Almost exclusively affects males, motor symptoms occur late in life and are slowly progressive.
• Endocrinological symptoms of androgen receptor deficiency usually present before motor symptoms.
• SBMA is an inherited motor neuron disease caused by polyglutamine expansion in the androgen
receptor gene AR1 on the X chromosome.
• Because of its X-chromosomal inheritance, SBMA almost exclusively affects males with the very rare
exception of women homozygous for the mutation.
SPINAL AND BULBAR MUSCULAR ATROPHY
(SBMA, KENNEDY DISEASE)
Clinical manifestation
• progressive muscular atrophy and weakness of thefacial, pharyngeal, and tongue muscles, as well as affectation
of the proximal shoulder and hip girdle muscles.
• Patients will show slowly progressive dysphagia, dysarthria, and weakness of proximal muscles of the
extremities.
• Symptoms often begin in one of these regions only and spread to the other regions after years or even decades.
• Motor symptom onset is usually late in life.
• However, patients usually show signs of the underlying androgen receptor mutation before motor symptoms
become apparent, such as gynecomastia, testicular atrophy, and fertility problems.
 SPINAL AND BULBAR MUSCULAR ATROPHY
(SBMA, KENNEDY DISEASE)
Imaging :
• On MRI, patients can present with atrophy of the
medulla oblongata and pons, while atrophy of the
clinically affected anterior horn of the lower spinal cord
is usually not visible.
SPINAL MUSCLE ATROPHY

• Group of rare autosomal recessively inherited diseases linked to the same gene.
• Age of onset and progression is determined by specifi c mutation.
• Spinal MRI typically normal.
SPINAL MUSCLE ATROPHY

• Spinal muscular atrophy (SMA) presents with progressive signs of lower motor neuron disease due to
degeneration of the anterior horn of the spinal gray matter.
• Symptoms include symmetric muscular weakness with loss of deep tendon reflexes and muscular atrophy.
• Clinically and genetically, SMA is divided into four subtypes, all of which are autosomal recessive
disorders caused by specific mutations of the SMN-1 gene.
• The type and location of mutation determine the age of onset, progression rate, and severity of symptoms.
• Disease onset can occur at any point in life, and life expectancy can be very limited with SMA type 1,
where symptoms present within the first 6 months of life.
 SPINAL MUSCLE ATROPHY

Imaging:
• Typically, MRI is normal in these patients, since the
degeneration of the anterior horn of spinal gray
matter is beyond the resolution of standard clinical
scanning.
• With high-resolution imaging, however,
degeneration can be detected
POLIOMYELITIS

• Poliomyelitis, or polio, is caused by the poliovirus. Infection occurs via the fecaloral route, and
effective vaccines are available.
• Most patients with fresh infections will be asymptomatic or experience gastrointestinal symptoms
only.
• In around 1–3 % of cases, however, the poliovirus enters the central nervous system. It targets spinal
and bulbar motor neurons, leading to progressive weakness and muscular atrophy with loss of deep
tendon reflexes.
• Clinically, motor symptoms are preceded by meningeal symptoms or even encephalitis.
• Diagnosis is made with stool cultures and serology.
POLIOMYELITIS

• The location of motor symptoms depends on the site of viral manifestation within the CNS, leading to spinal,
bulbar, and bulbospinal forms of poliomyelitis.
• Bulbar involvement is particularly dangerous, leading to respiratory deficiency or palsy of pharyngeal muscles with
subsequent dysphagia, or even fatal inflammation of the entire brain stem.
• Most symptomatic infections occur in children, and spinal polio can lead to deformities of the extremities due to
insufficient musculature during the growth phase.
• The virus also targets neurons in the spinal ganglia and the deep cerebellar nuclei.
• Despite paresthesia during the initial phase, loss of sensation in the extremities is typically absent.
• Note that some patients will experience progression of motor symptoms or progressive fatigue decades after the
infection, a condition called post-polio syndrome that can be severely disabling.
POLIOMYELITIS

Imaging:
• On T2-w, polio can present with hyperintensity of the anterior horn of the spinal gray
matter.
• In cases of bulbar polio, inflammatory disease of the entire medulla oblongata may be
seen with T2-w hyperintensity, swelling, and diffusecontrast enhancement.
 PROGRESSIVE MUSCULAR ATROPHY (PMA)

• PMA is a variant in the spectrum of sporadic motor neuron diseases (MND), which also includes the more common amyotrophic
lateral sclerosis (ALS).
• PMA refers to exclusive degeneration of the lower motor neuron, leading to muscular weakness, atrophy, and fasciculations.
• The onset of motor symptoms is usually unilateral (as opposed to SMA or SBMA) and focal. Symptoms spread from one region
of the body (upper, lower extremity muscles, thoracic and bulbar muscles) to the contralateral side and to the other regions.
• Unlike ALS, where both the lower and upper motor neurons are affected, PMA patients present with decrease or loss of deep
tendon reflexes, and not spasticity.
• PMA accounts for around 5–7 % of MND. Evolution toward full-blown ALS with affectation of the upper motor neuron occurs
in around one quarter of cases.
• Age of onset is usually between 50 and 70 years of age, and PMA is more common in men than in women (3:1–4:1).
• Median survival after symptom onset is longer than in ALS and reported at around 2–5 years in studies, with survival beyond 10
years seen in around 10 % of cases.
• Imaging : Spinal MRI is typically normal in PMA patients. Unlike ALS, cranial MRI is also normal in PMA.
MONOMELIC AMYOTROPHY (MMA, HIRAYAMA
DISEASE)
• MMA presents with unilateral weakness, muscle atrophy, and fasciculations in an extremity, usually in distal muscles innervated
by the segments C7–Th1.
• While the term Hirayama disease is reserved for cases with upper limb involvement, MMA can very rarely present in a lower
limb.
• Upper motor neuron signs are absent.
• Typically but not exclusively, young males of Asian origin are affected (Japanese and Indian patients in particular).
• The age of onset is between 10 and 25 years of age.
• The disease is self-limiting after a progressive phase of 1–5 years. It does not extend beyond the spinal segments controlling one
limb, rarely resulting in clinically significant disability.
• While the etiology of MMA is not conclusively established, dynamic compression of the spinal cord on the anterior aspect of the
spinal canal during neck flexion has been demonstrated with MRI in patients with upper limb involvement.
MONOMELIC AMYOTROPHY (MMA, HIRAYAMA
DISEASE)
Imaging:
• Patients suspected of MMA should receive MRI either of the cervical or the lower
thoracic spine including conus, depending on whether an upper or lower limb is affected.
• On axial T2-w, increased signal in the anterior horn of the affected and neighboring
segments may be seen.
• Segmental atrophy of the spinal cord can occur. MRI also serves to rule out other
compressive diseases
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