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

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 hyperintensities in the callosal body (arrow).

examination revealed saccadic eye movement, dysarthria, ataxia and spasticity of the bilateral feet, exaggerated deep tendon reflexes (DTRs), and bilateral positive Babinski signs. Blood examination disclosed elevation of very long chain fatty acids (C24:0/C22:0 2.09, C25:0/C22:0 0.080, and C26:0/C22:0 0.075) and ACTH (173 pg/ml). Brain MRI showed FLAIR hyperintensities in the cerebellar white matter and callosal body, whereas there was no gadolinium enhanced area (**Figure 1**). No atrophy or abnormal signals were observed on MRI of the spinal cord. Brain single photon emission computed tomography (SPECT) demonstrated cerebellar hypoperfusion. For an accurate diagnosis, gene analysis was performed by another institution, which revealed a non-synonymous missense variant of the *ABCD1* gene.

He was administered hydrocortisone and propiverine because of his adrenal insufficiency and frequent urination, and underwent physical rehabilitation (walking and balance exercise) for his leg spasticity and ataxia. We referred him to another hospital, and allogeneic hematopoietic stem cell transplantation was recommended [9, 10], but he denied this treatment.
