**3. Amyotrophic lateral sclerosis (ALS)**

spinal cord disorders will be described. In this chapter, cases with X-linked adrenoleukodystrophy (X-ALD), amyotrophic lateral sclerosis (ALS), hereditary spastic paraplegia (HSP), HTLV-

Adrenoleukodystrophy is an X-linked recessive disorder that affects the central nervous system white matter and the adrenal cortex [7, 8]. It is classified into several subtypes. The most frequent type is the childhood cerebral form, which initially resembles a behavior disorder and presents adrenal insufficiency, followed by mental impairment, cortical blindness, cortical deafness, spastic tetraplegia and convulsions. This form leads to a decerebrate state for a few years after onset. Whereas the adult forms are divided into adult cerebral, adrenomyeloneuropathy, and cerebellobrainstem. Here we present adult cerebral form case with cerebellar ataxia and spastic paraplegia. A 53-year-old man was admitted to our hospital because of mental deterioration and gait disturbance. His uncle on his mother's side suffered from gait disturbance from 40 years of age. His total IQ according to Wechsler Adult Intelligence Score (WAIS)-III was 64. He showed emotional incontinence and attention deficit. Gingival pigmentation was noted. Neurological

**Figure 1.** Brain MRI of the adrenoleukodystrophy patient. T1 gadolinium (Gd) enhance: no enhanced area in his brain. FLAIR axial: FLAIR hyperintensities in the cerebellar white matters and callosal body (arrow). FLAIR sagittal: FLAIR

1-associated myelopathy (HAM), multiple sclerosis (MS) are introduced.

**2. Adrenoleukodystrophy (X-ALD)**

58 Essentials of Spinal Cord Injury Medicine

hyperintensities in the callosal body (arrow).

ALS is a fatal disorder characterized by muscle weakness and atrophy, and swallowing and respiratory disturbances [11]. The pathologic findings are upper (brain) and lower (spinal cord) motor neuron degenerations. In some ALS cases, spastic paraplegia can be a predominant symptom in the early stage of the disease. Here we present a case that showed spastic paraplegia as an initial phenotype.

A 60-year-old man was admitted to our hospital to alleviate his lower leg spasticity. Three years ago, he suffered from left leg discomfort and gait disturbance. Then the same sense of discomfort spread to his right foot. Neurological examination on admission showed marked leg spasticity with laterality and a spastic gait, exaggerated DTRs, and positive pathological reflexes. The brain and spinal cord MRI findings were normal. Motor evoked potentials suggested upper motor neuron disturbances.

We administered some muscle relaxants. He underwent gait rehabilitation and botulinum toxin injection to his lower legs. These therapies slightly improved the range of motion of knee and foot joints. But he refused intrathecal baclofen.

After 1 year, he noticed dysphagia and intrinsic hand muscle atrophy. Neurological reevaluation revealed bulbar signs and distal muscle weakness, these findings leading to a diagnosis of ALS. Although he underwent intermittent edaravone infusion therapy [12], his muscle weakness and atrophy gradually worsened and he became bedridden.
