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Spastic paraparesis-deafness syndrome
Spastic paraparesis-deafness syndrome is a chronic neurodegenerative disorder characterised by spastic paraparesis (beginning at about 10 years of age) and hearing deficits.
It has been described in affecting at least six male members spanning three generations of a large family.
Some relatives presented with tremor, cataracts, sensory deficits, short stature, hypogonadism, elevated cerebrospinal fluid protein, and/or absent or prolonged somatosensory evoked potentials.
Differential diagnosis includes adrenoleukodystrophy (see this term), but values for very long chain fatty acids are normal.